Y46C (p.Tyr46Cys) variant of IRS1 (Insulin receptor substrate 1)
Y46C (p.Tyr46Cys) 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 0.72 / 1. The record also includes population frequency data.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- NCI-TCGA TCGA novel
- gnomAD rs1939809926
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)