C104F (p.Cys104Phe) variant of ADH1B (P00325)
C104F (p.Cys104Phe) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C104F (p.Cys104Phe) variant details
- p.Cys104Phe
- TOPMed rs1388205058
- gnomAD rs1388205058
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.51
- CADD 25.10
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available