R391H (p.Arg391His) variant of VDR (Vitamin D3 receptor)
R391H (p.Arg391His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
R391H (p.Arg391His) variant details
- p.Arg391His
- rs776088779
- ClinGen CA6533730
- ClinVar RCV003062490
- ClinVar RCV004796759
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Vitamin D-dependent rickets type II with alopecia; not provided)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Population evidence available
- Structural context available