C40S (p.Cys40Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
C40S (p.Cys40Ser) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C40S (p.Cys40Ser) variant details
- p.Cys40Ser
- ExAC rs765865740
- TOPMed rs765865740
- gnomAD rs765865740
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.01
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available