Q22K (p.Gln22Lys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
Q22K (p.Gln22Lys) 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; not provided. 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.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- rs1819996040
- ClinGen CA368183062
- ClinVar RCV004351126
- ClinVar RCV006561494
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -0.99
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.89
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available