S138N (p.Ser138Asn) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S138N (p.Ser138Asn) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S138N (p.Ser138Asn) variant details
- p.Ser138Asn
- ExAC rs750743669
- gnomAD rs750743669
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.18
- MetaLR 0.27
- MetaSVM -0.55
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available