S18P (p.Ser18Pro) variant of ALDH2 (P05091)
S18P (p.Ser18Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 12-111767034-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.22
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available