A109S (p.Ala109Ser) variant of IRS1 (Insulin receptor substrate 1)
A109S (p.Ala109Ser) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
A109S (p.Ala109Ser) variant details
- p.Ala109Ser
- gnomAD rs1486646288
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.50
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)