S63A (p.Ser63Ala) variant of IRS1 (Insulin receptor substrate 1)
S63A (p.Ser63Ala) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
S63A (p.Ser63Ala) variant details
- p.Ser63Ala
- TOPMed rs1490732590
- gnomAD rs1490732590
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.31
- CADD 21.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)