R11A (p.Arg11Ala) variant of ALDH2 (P05091)
R11A (p.Arg11Ala) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R11A (p.Arg11Ala) variant details
- p.Arg11Ala
- gnomAD 12-111767009-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 21.00
- Most common in the Middle Eastern population (allele frequency 0.00042)
- Structural context available
- Literature evidence available