S18L (p.Ser18Leu) variant of ALDH2 (P05091)
S18L (p.Ser18Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- gnomAD 12-111767035-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.19
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available