A129V (p.Ala129Val) variant of IRS1 (Insulin receptor substrate 1)
A129V (p.Ala129Val) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
A129V (p.Ala129Val) variant details
- p.Ala129Val
- rs745927014
- ExAC rs745927014
- gnomAD rs745927014
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.04
- CADD 5.28
- PolyPhen-2 0.00
- SIFT 0.62
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)