A4V (p.Ala4Val) variant of ADH1B (P00325)
A4V (p.Ala4Val) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- Ensembl rs1734021711
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available