R14A (p.Arg14Ala) variant of ALDH2 (P05091)
R14A (p.Arg14Ala) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R14A (p.Arg14Ala) variant details
- p.Arg14Ala
- gnomAD 12-111767020-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available