N125H (p.Asn125His) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
N125H (p.Asn125His) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
N125H (p.Asn125His) variant details
- p.Asn125His
- ESP rs372875744
- ExAC rs372875744
- TOPMed rs372875744
- gnomAD rs372875744
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.61
- MetaLR 0.52
- MetaSVM 0.14
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available