S37L (p.Ser37Leu) variant of CYP27A1 (Q02318)
S37L (p.Ser37Leu) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- rs1559384559
- ClinGen CA350576000
- ClinVar RCV000735116
- ClinVar RCV002477734
- Uncertain significance
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.09
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.92
- CADD 9.45
- PolyPhen-2 0.82
- ClinVar: Uncertain significance (not provided; Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)