W11* (p.Trp11Ter) variant of CYP27A1 (Q02318)
W11* (p.Trp11Ter) in CYP27A1 (Q02318) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- rs1398584213
- ClinGen CA350575413
- ClinVar RCV001907858
- TOPMed rs1398584213
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)