D8H (p.Asp8His) variant of IRS1 (Insulin receptor substrate 1)
D8H (p.Asp8His) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
D8H (p.Asp8His) variant details
- p.Asp8His
- ExAC rs745389011
- gnomAD rs745389011
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.27
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00031)