S137N (p.Ser137Asn) variant of IRS1 (Insulin receptor substrate 1)
S137N (p.Ser137Asn) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
S137N (p.Ser137Asn) variant details
- p.Ser137Asn
- TOPMed rs1349574681
- gnomAD rs1349574681
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.15
- CADD 23.10
- PolyPhen-2 0.75
- SIFT 0.06
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)