A24D (p.Ala24Asp) variant of ALDH2 (P05091)
A24D (p.Ala24Asp) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- gnomAD 12-111767053-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.19
- CADD 13.90
- PolyPhen-2 0.09
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available