W286R (p.Trp286Arg) variant of VDR (Vitamin D3 receptor)
W286R (p.Trp286Arg) 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 record also includes structural context.
W286R (p.Trp286Arg) variant details
- p.Trp286Arg
- rs2539969247
- ClinGen CA384516392
- ClinVar RCV003236657
- NCI-TCGA Cosmic COSV9996
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- ClinVar: Pathogenic (Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available