L4M (p.Leu4Met) variant of CYP27A1 (Q02318)
L4M (p.Leu4Met) 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 0.27 / 1. The record also includes population frequency data and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD rs1187805203
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.46
- SIFT 0.03
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available