G5R (p.Gly5Arg) variant of ADH1B (P00325)
G5R (p.Gly5Arg) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- 1000Genomes rs553464868
- ExAC rs553464868
- gnomAD rs553464868
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.21
- CADD 23.90
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available