R3G (p.Arg3Gly) variant of ALDH2 (P05091)
R3G (p.Arg3Gly) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- gnomAD 12-111766989-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.19
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available