K28T (p.Lys28Thr) variant of CYP27A1 (Q02318)
K28T (p.Lys28Thr) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K28T (p.Lys28Thr) variant details
- p.Lys28Thr
- rs371449777
- ClinGen CA2112510
- ClinVar RCV000591741
- ClinVar RCV001054067
- Uncertain significance
- not provided; Cardiovascular phenotype; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.33
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Cholestanol storage dise)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)