G42R (p.Gly42Arg) variant of CYP27A1 (Q02318)
G42R (p.Gly42Arg) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs2106479143
- ClinGen CA350576081
- ClinVar RCV001892994
- Ensembl rs2106479143
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.09
- MetaLR 0.17
- MetaSVM -1.01
- PolyPhen-2 0.02
- SIFT 0.43
- MutPred 0.30
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)