N170D (p.Asn170Asp) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
N170D (p.Asn170Asp) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N170D (p.Asn170Asp) variant details
- p.Asn170Asp
- Ensembl rs2130953382
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.48
- MetaLR 0.56
- MetaSVM 0.05
- CADD 25.50
- PolyPhen-2 0.78
- SIFT 0.02
- Population evidence available
- Structural context available