C133F (p.Cys133Phe) variant of ADH1B (P00325)
C133F (p.Cys133Phe) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C133F (p.Cys133Phe) variant details
- p.Cys133Phe
- TOPMed rs1310003359
- gnomAD rs1310003359
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available