A20V (p.Ala20Val) variant of ALDH2 (P05091)
A20V (p.Ala20Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 12-111767041-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.18
- CADD 13.60
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available