K259R (p.Lys259Arg) variant of CYP27A1 (Q02318)
K259R (p.Lys259Arg) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K259R (p.Lys259Arg) variant details
- p.Lys259Arg
- rs72551317
- ClinGen CA345234
- ClinVar RCV000056144
- ClinVar RCV002292465
- Pathogenic/Likely pathogenic
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.29
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)