M1T (p.Met1Thr) variant of CYP27A1 (Q02318)
M1T (p.Met1Thr) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CYP27A1-related disorder; Cholestanol storage disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs759003992
- ClinGen CA2112501
- ClinVar RCV000286244
- ClinVar RCV000351883
- Conflicting interpretations
- CYP27A1-related disorder; Cholestanol storage disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- MetaLR 0.30
- MetaSVM -0.65
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.94
- ClinVar: Conflicting classifications of pathogenicity (CYP27A1-related disorder; Cholestanol storage disease; not provi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)