R15S (p.Arg15Ser) variant of ALDH2 (P05091)
R15S (p.Arg15Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- gnomAD 12-111767025-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.20
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available