Q23K (p.Gln23Lys) variant of ALDH2 (P05091)
Q23K (p.Gln23Lys) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- gnomAD 12-111767049-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.05
- CADD 10.50
- PolyPhen-2 0.02
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available