A38V (p.Ala38Val) variant of IRS1 (Insulin receptor substrate 1)
A38V (p.Ala38Val) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- TOPMed rs1359256482
- gnomAD rs1359256482
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.14
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)