A60V (p.Ala60Val) variant of IRS2 (Insulin receptor substrate 2)
A60V (p.Ala60Val) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- Ensembl rs1594393125
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.06
- CADD 17.90
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available