K26N (p.Lys26Asn) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
K26N (p.Lys26Asn) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K26N (p.Lys26Asn) variant details
- p.Lys26Asn
- TOPMed rs1179748917
- gnomAD rs1179748917
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- MetaLR 0.14
- MetaSVM -1.05
- CADD 17.80
- PolyPhen-2 0.20
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available