R343C (p.Arg343Cys) variant of VDR (Vitamin D3 receptor)
R343C (p.Arg343Cys) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; 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.
R343C (p.Arg343Cys) variant details
- p.Arg343Cys
- rs1057521095
- ClinGen CA16606541
- cosmic curated COSV10800
- ClinVar RCV000421461
- Likely pathogenic
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.96
- MetaLR 0.94
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available