R7C (p.Arg7Cys) variant of ALDH2 (P05091)
R7C (p.Arg7Cys) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- ExAC rs766577822
- TOPMed rs766577822
- gnomAD rs766577822
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.23
- CADD 15.90
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available