R432C (p.Arg432Cys) variant of CYP27B1 (O15528)
R432C (p.Arg432Cys) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
R432C (p.Arg432Cys) variant details
- p.Arg432Cys
- rs1029699819
- ClinGen CA237813692
- NCI-TCGA Cosmic COSV9914
- ClinVar RCV003557753
- Pathogenic/Likely pathogenic
- not provided; Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available