R274C (p.Arg274Cys) variant of VDR (Vitamin D3 receptor)
R274C (p.Arg274Cys) 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 Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
R274C (p.Arg274Cys) variant details
- p.Arg274Cys
- rs757881350
- ClinGen CA6533847
- cosmic curated COSV57466
- ClinVar RCV003990042
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.96
- MetaLR 0.94
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance (in VDDR2A)
- UniProt: Uncertain significance (in VDDR2A)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available