R11H (p.Arg11His) variant of ALDH2 (P05091)
R11H (p.Arg11His) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- gnomAD 12-111767014-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.21
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available