R121W (p.Arg121Trp) variant of ADH1B (P00325)
R121W (p.Arg121Trp) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R121W (p.Arg121Trp) variant details
- p.Arg121Trp
- ExAC rs778449756
- TOPMed rs778449756
- gnomAD rs778449756
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- CADD 22.90
- PolyPhen-2 0.66
- SIFT 0.01
- Population evidence available
- Structural context available