R7H (p.Arg7His) variant of ALDH2 (P05091)
R7H (p.Arg7His) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- 1000Genomes rs566590864
- ExAC rs566590864
- TOPMed rs566590864
- gnomAD rs566590864
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.28
- CADD 14.50
- PolyPhen-2 0.13
- SIFT 0.11
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available