L17W (p.Leu17Trp) variant of ALDH2 (P05091)
L17W (p.Leu17Trp) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L17W (p.Leu17Trp) variant details
- p.Leu17Trp
- 1000Genomes rs372948453
- TOPMed rs372948453
- gnomAD rs372948453
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.36
- CADD 19.30
- PolyPhen-2 0.19
- SIFT 0.15
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available