S72F (p.Ser72Phe) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S72F (p.Ser72Phe) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S72F (p.Ser72Phe) variant details
- p.Ser72Phe
- ExAC rs773113914
- gnomAD rs773113914
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.83
- MetaLR 0.75
- MetaSVM 0.60
- CADD 29.50
- PolyPhen-2 0.91
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available