R75W (p.Arg75Trp) variant of IRS1 (Insulin receptor substrate 1)
R75W (p.Arg75Trp) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
R75W (p.Arg75Trp) variant details
- p.Arg75Trp
- NCI-TCGA Cosmic COSV5934
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.81
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)