R391C (p.Arg391Cys) variant of VDR (Vitamin D3 receptor)
R391C (p.Arg391Cys) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R391C (p.Arg391Cys) variant details
- p.Arg391Cys
- rs121909800
- ClinGen CA119040
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99968
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.98
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Population evidence available
- Structural context available
- Cited in: Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced… (PMID 8961271)
- Cited in: A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II… (PMID 1652893)