R74H (p.Arg74His) variant of VDR (Vitamin D3 receptor)
R74H (p.Arg74His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R74H (p.Arg74His) variant details
- p.Arg74His
- rs1000899385
- ClinGen CA236476902
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57466
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.90
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available