A21D (p.Ala21Asp) variant of ALDH2 (P05091)
A21D (p.Ala21Asp) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- gnomAD 12-111767044-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.31
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available