R14S (p.Arg14Ser) variant of ALDH2 (P05091)
R14S (p.Arg14Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- gnomAD 12-111767022-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.24
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available