S63W (p.Ser63Trp) variant of IRS1 (Insulin receptor substrate 1)
S63W (p.Ser63Trp) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
S63W (p.Ser63Trp) variant details
- p.Ser63Trp
- TOPMed rs1234435076
- gnomAD rs1234435076
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.67
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)