A34V (p.Ala34Val) variant of IRS1 (Insulin receptor substrate 1)
A34V (p.Ala34Val) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- Ensembl rs2106188028
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.45
- CADD 28.40
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)