R122W (p.Arg122Trp) variant of CYP27B1 (O15528)
R122W (p.Arg122Trp) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R122W (p.Arg122Trp) variant details
- p.Arg122Trp
- 1000Genomes rs561541172
- TOPMed rs561541172
- gnomAD rs561541172
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available