A5A (p.Ala5Ala) variant of ALDH2 (P05091)
A5A (p.Ala5Ala) in ALDH2 (P05091) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs2068162629
- gnomAD 12-111766997-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.90
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available
- Literature evidence available