Q30R (p.Gln30Arg) variant of ALDH2 (P05091)
Q30R (p.Gln30Arg) 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.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- gnomAD 12-111767071-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available