R7S (p.Arg7Ser) variant of ALDH2 (P05091)
R7S (p.Arg7Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD 12-111767001-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.09
- CADD 3.92
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available