A6V (p.Ala6Val) variant of ALDH2 (P05091)
A6V (p.Ala6Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD rs1213920796
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.10
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available