M125V (p.Met125Val) variant of INSR (Insulin receptor)
M125V (p.Met125Val) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M125V (p.Met125Val) variant details
- p.Met125Val
- ExAC rs775779827
- gnomAD rs775779827
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.91
- MetaLR 0.68
- MetaSVM 0.56
- CADD 25.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available