S63L (p.Ser63Leu) variant of IRS1 (Insulin receptor substrate 1)
S63L (p.Ser63Leu) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
S63L (p.Ser63Leu) variant details
- p.Ser63Leu
- TOPMed rs1234435076
- gnomAD rs1234435076
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.42
- CADD 25.00
- PolyPhen-2 0.64
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00031)