F71V (p.Phe71Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
F71V (p.Phe71Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
F71V (p.Phe71Val) variant details
- p.Phe71Val
- ExAC rs763030715
- gnomAD rs763030715
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.99
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available