R7A (p.Arg7Ala) variant of ALDH2 (P05091)
R7A (p.Arg7Ala) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R7A (p.Arg7Ala) variant details
- p.Arg7Ala
- gnomAD 12-111766998-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available