E69K (p.Glu69Lys) variant of ADH1B (P00325)
E69K (p.Glu69Lys) 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 0.59 / 1. The record also includes population frequency data and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- NCI-TCGA Cosmic COSV5929
- cosmic curated COSV59296
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.51
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available