N93K (p.Asn93Lys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
N93K (p.Asn93Lys) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N93K (p.Asn93Lys) variant details
- p.Asn93Lys
- TOPMed rs1206256829
- gnomAD rs1206256829
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.07
- MetaLR 0.13
- MetaSVM -1.03
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- Structural context available