A125V (p.Ala125Val) variant of IRS1 (Insulin receptor substrate 1)
A125V (p.Ala125Val) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- ExAC rs768966933
- TOPMed rs768966933
- gnomAD rs768966933
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.05
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Middle Eastern population (allele frequency 0.0007)