Table 2 In-silico predictors of pathogenicity and evolutionary conservation analysis for the HNF1βmutation described in the text
In-silico prediction of pathogenicity for HNF1β c.1580G > A (p.Arg527Gln) | ||
Tool | Prediction | Score |
MutationTaster | Disease causing | |
MutationAssessor | Medium | 2.48 |
FATHMM-MKL | Damaging | 0.9625 |
MetaSVM | Damaging | 0.9934 |
MetalR | Damaging | 0.9388 |
LRT | Deletrious | 0 |
PolyPhen-2 - HumVar | Probably damaging | 0.998 |
SIFT | Damaging | 0.038 |
DAMN score | 0.9996 | |
CADD scaled score | 35 | |
Evolutionary conservation analysis for HNF1β c.1580G > A (p.Arg527Gln) | ||
Genomic Evolutionary Rate Profiling (GERP) | 5.63 | |
PhyloP20way - mammalian | 0.935 | |
SiPhy29way - mammalian | 0.9297 | |