M1V (p.Met1Val) variant of CYP27A1 (Q02318)
M1V (p.Met1Val) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1446633660
- ClinGen CA350575144
- ClinVar RCV000664683
- Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- MetaLR 0.27
- MetaSVM -0.67
- PolyPhen-2 0.30
- SIFT 0.01
- MutPred 0.96
- ClinVar: Likely pathogenic (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)