R67H (p.Arg67His) variant of VDR (Vitamin D3 receptor)
R67H (p.Arg67His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R67H (p.Arg67His) variant details
- p.Arg67His
- rs753383761
- ClinGen CA6534001
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57468
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.34
- MetaLR 0.72
- MetaSVM 0.19
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available