F104C (p.Phe104Cys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
F104C (p.Phe104Cys) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
F104C (p.Phe104Cys) variant details
- p.Phe104Cys
- TOPMed rs957151238
- gnomAD rs957151238
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.85
- AlphaMissense 0.55
- MetaLR 0.69
- MetaSVM 0.62
- CADD 32.00
- PolyPhen-2 0.84
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available