A24V (p.Ala24Val) variant of ALDH2 (P05091)
A24V (p.Ala24Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- TOPMed rs1414093989
- gnomAD rs1414093989
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available