R274H (p.Arg274His) variant of VDR (Vitamin D3 receptor)
R274H (p.Arg274His) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Vitamin D-dependent rickets type II with alopecia; Rickets. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R274H (p.Arg274His) variant details
- p.Arg274His
- rs121909796
- ClinGen CA384516583
- cosmic curated COSV10955
- ClinVar RCV001169944
- Pathogenic/Likely pathogenic
- not provided; Vitamin D-dependent rickets type II with alopecia; Rickets
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Vitamin D-dependent rickets type II with alopecia;)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available