M130K (p.Met130Lys) variant of CYP27A1 (Q02318)
M130K (p.Met130Lys) 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 0.51 / 1. The record also includes published literature and structural context.
M130K (p.Met130Lys) variant details
- p.Met130Lys
- rs1169227791
- ClinGen CA350583513
- ClinVar RCV003475577
- TOPMed rs1169227791
- Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.43
- MetaLR 0.46
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.60
- ClinVar: Likely pathogenic (Cholestanol storage disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)