Q30L (p.Gln30Leu) variant of ALDH2 (P05091)
Q30L (p.Gln30Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q30L (p.Gln30Leu) variant details
- p.Gln30Leu
- gnomAD 12-111767071-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.07
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available