A17V (p.Ala17Val) variant of INSR (Insulin receptor)
A17V (p.Ala17Val) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- 1000Genomes rs777801415
- ExAC rs777801415
- gnomAD rs777801415
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.05
- MetaLR 0.20
- MetaSVM -0.97
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available