C112Y (p.Cys112Tyr) variant of ADH1B (P00325)
C112Y (p.Cys112Tyr) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C112Y (p.Cys112Tyr) variant details
- p.Cys112Tyr
- ESP rs376805756
- ExAC rs376805756
- TOPMed rs376805756
- gnomAD rs376805756
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.53
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available