V74M (p.Val74Met) variant of ADH1B (P00325)
V74M (p.Val74Met) 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 0.51 / 1. The record also includes population frequency data and structural context.
V74M (p.Val74Met) variant details
- p.Val74Met
- rs1183413755
- NCI-TCGA Cosmic COSV5929
- cosmic curated COSV59297
- TOPMed rs1183413755
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available