R18L (p.Arg18Leu) variant of CYP27A1 (Q02318)
R18L (p.Arg18Leu) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- rs2106479070
- ClinGen CA350575580
- ClinVar RCV001844521
- Ensembl rs2106479070
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.79
- MutPred 0.45
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available