R38C (p.Arg38Cys) variant of ADH1B (P00325)
R38C (p.Arg38Cys) in ADH1B (P00325) 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 0.54 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs770117532
- NCI-TCGA Cosmic COSV5929
- cosmic curated COSV59295
- ExAC rs770117532
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.39
- CADD 24.70
- PolyPhen-2 0.47
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available