A38S (p.Ala38Ser) variant of IRS1 (Insulin receptor substrate 1)
A38S (p.Ala38Ser) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- TOPMed rs1299700780
- gnomAD rs1299700780
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.09
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 0.00031)