L16P (p.Leu16Pro) variant of ALDH2 (P05091)
L16P (p.Leu16Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 12-111767029-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available