V53M (p.Val53Met) variant of ADH1B (P00325)
V53M (p.Val53Met) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- cosmic curated COSV59298
- gnomAD rs980036132
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.09
- CADD 13.30
- PolyPhen-2 0.20
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available