A27V (p.Ala27Val) variant of ALDH2 (P05091)
A27V (p.Ala27Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD rs1233413221
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.18
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available