C108R (p.Cys108Arg) variant of CYP27B1 (O15528)
C108R (p.Cys108Arg) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
C108R (p.Cys108Arg) variant details
- p.Cys108Arg
- TOPMed rs1955357999
- gnomAD rs1955357999
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- ESM-1b 0.00
- AlphaMissense 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available