R137Q (p.Arg137Gln) variant of CYP27A1 (Q02318)
R137Q (p.Arg137Gln) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R137Q (p.Arg137Gln) variant details
- p.Arg137Gln
- rs587778818
- ClinGen CA345260
- ClinVar RCV000056176
- ClinVar RCV001267947
- Pathogenic/Likely pathogenic
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.77
- AlphaMissense 0.56
- MetaLR 0.58
- MetaSVM 0.28
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)