A19D (p.Ala19Asp) variant of ALDH2 (P05091)
A19D (p.Ala19Asp) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 12-111767038-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.15
- CADD 13.00
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available