A67V (p.Ala67Val) variant of IRS2 (Insulin receptor substrate 2)
A67V (p.Ala67Val) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A67V (p.Ala67Val) variant details
- p.Ala67Val
- TOPMed rs1877905950
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.05
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available