G145E (p.Gly145Glu) variant of CYP27A1 (Q02318)
G145E (p.Gly145Glu) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G145E (p.Gly145Glu) variant details
- p.Gly145Glu
- rs72551313
- ClinGen CA340219
- ClinVar RCV000004485
- UniProt VAR 016966
- Pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.78
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cholestanol storage disease)
- EBI: Pathogenic (in CTX)
- UniProt: Pathogenic (in CTX)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. (PMID 12000359)
- Cited in: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. (PMID 2019602)