W11R (p.Trp11Arg) variant of CYP27A1 (Q02318)
W11R (p.Trp11Arg) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar 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 0.45 / 1. The record also includes population frequency data and structural context.
W11R (p.Trp11Arg) variant details
- p.Trp11Arg
- TOPMed rs1209215033
- gnomAD rs1209215033
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Cholestanol storage disease)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available