A6R (p.Ala6Arg) variant of ALDH2 (P05091)
A6R (p.Ala6Arg) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A6R (p.Ala6Arg) variant details
- p.Ala6Arg
- gnomAD 12-111766996-CCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available