Q30K (p.Gln30Lys) variant of ALDH2 (P05091)
Q30K (p.Gln30Lys) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q30K (p.Gln30Lys) variant details
- p.Gln30Lys
- gnomAD 12-111767070-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.05
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available