S37W (p.Ser37Trp) variant of CYP27A1 (Q02318)
S37W (p.Ser37Trp) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
S37W (p.Ser37Trp) variant details
- p.Ser37Trp
- rs1559384559
- ClinGen CA350575998
- ClinVar RCV001989345
- ClinVar RCV004793682
- Uncertain significance
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.92
- PolyPhen-2 0.82
- SIFT 0.02
- MutPred 0.32
- ClinVar: Uncertain significance (not provided; Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)