A4V (p.Ala4Val) variant of ALDH2 (P05091)
A4V (p.Ala4Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- TOPMed rs893145442
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.13
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available