N31K (p.Asn31Lys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
N31K (p.Asn31Lys) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- 1000Genomes rs146964281
- ESP rs146964281
- ExAC rs146964281
- TOPMed rs146964281
- Likely benign
- Missense
- MetaLR 0.10
- MetaSVM -1.03
- SIFT 0.58
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available