R121Q (p.Arg121Gln) variant of ADH1B (P00325)
R121Q (p.Arg121Gln) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
R121Q (p.Arg121Gln) variant details
- p.Arg121Gln
- 1000Genomes rs149651454
- ExAC rs149651454
- TOPMed rs149651454
- gnomAD rs149651454
- Missense
- Variant Prioritization Score for Impact Estimate 0.053
- REVEL 0.02
- CADD 3.24
- PolyPhen-2 0.00
- SIFT 0.96
- Population evidence available
- Structural context available