S18W (p.Ser18Trp) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S18W (p.Ser18Trp) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S18W (p.Ser18Trp) variant details
- p.Ser18Trp
- ExAC rs769042342
- TOPMed rs769042342
- gnomAD rs769042342
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.19
- MetaLR 0.17
- MetaSVM -0.90
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available