R67C (p.Arg67Cys) variant of VDR (Vitamin D3 receptor)
R67C (p.Arg67Cys) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Vitamin D-dependent rickets type II with alopecia; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- rs369248365
- ClinGen CA6534002
- ClinVar RCV001957409
- ClinVar RCV002479457
- Uncertain significance
- not provided; Vitamin D-dependent rickets type II with alopecia; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.68
- MetaLR 0.89
- MetaSVM 0.95
- CADD 31.00
- PolyPhen-2 0.81
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Vitamin D-dependent rickets type II with alopecia;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)