K26R (p.Lys26Arg) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
K26R (p.Lys26Arg) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- rs1232419052
- ClinGen CA368182967
- ClinVar RCV004268049
- TOPMed rs1232419052
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.04
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available