G72S (p.Gly72Ser) variant of ADH1B (P00325)
G72S (p.Gly72Ser) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- ExAC rs772280195
- TOPMed rs772280195
- gnomAD rs772280195
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.55
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available