L17F (p.Leu17Phe) variant of ALDH2 (P05091)
L17F (p.Leu17Phe) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- gnomAD 12-111767033-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.24
- CADD 9.92
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available