G72C (p.Gly72Cys) variant of ADH1B (P00325)
G72C (p.Gly72Cys) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G72C (p.Gly72Cys) variant details
- p.Gly72Cys
- ExAC rs772280195
- TOPMed rs772280195
- gnomAD rs772280195
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.58
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available