R84C (p.Arg84Cys) variant of CYP27B1 (O15528)
R84C (p.Arg84Cys) in CYP27B1 (O15528) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R84C (p.Arg84Cys) variant details
- p.Arg84Cys
- rs1451132521
- gnomAD rs1451132521
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.23
- MetaSVM -0.76
- PolyPhen-2 0.16
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available