C101F (p.Cys101Phe) variant of ADH1B (P00325)
C101F (p.Cys101Phe) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C101F (p.Cys101Phe) variant details
- p.Cys101Phe
- ExAC rs773002927
- gnomAD rs773002927
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.59
- CADD 26.30
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available