R18S (p.Arg18Ser) variant of CYP27A1 (Q02318)
R18S (p.Arg18Ser) in CYP27A1 (Q02318) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- TOPMed rs1284837909
- gnomAD rs1284837909
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.15
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.78
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available