T339M (p.Thr339Met) variant of CYP27A1 (Q02318)
T339M (p.Thr339Met) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T339M (p.Thr339Met) variant details
- p.Thr339Met
- rs121908102
- ClinGen CA340221
- ClinVar RCV000004487
- ClinVar RCV000518366
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Cholestanol storage dise)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. (PMID 16278884)
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)