A34V (p.Ala34Val) variant of ADH1B (P00325)
A34V (p.Ala34Val) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- 1000Genomes rs555863882
- ExAC rs555863882
- TOPMed rs555863882
- gnomAD rs555863882
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available