R121G (p.Arg121Gly) variant of ADH1B (P00325)
R121G (p.Arg121Gly) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R121G (p.Arg121Gly) variant details
- p.Arg121Gly
- ExAC rs778449756
- TOPMed rs778449756
- gnomAD rs778449756
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.06
- CADD 14.50
- Population evidence available
- Structural context available