D122N (p.Asp122Asn) variant of IRS1 (Insulin receptor substrate 1)
D122N (p.Asp122Asn) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
D122N (p.Asp122Asn) variant details
- p.Asp122Asn
- TOPMed rs559822183
- gnomAD rs559822183
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.14
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00041)