G9V (p.Gly9Val) variant of ALDH2 (P05091)
G9V (p.Gly9Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- gnomAD 12-111767008-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.17
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available