R104W (p.Arg104Trp) variant of VDR (Vitamin D3 receptor)
R104W (p.Arg104Trp) 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 0.67 / 1. The record also includes population frequency data and structural context.
R104W (p.Arg104Trp) variant details
- p.Arg104Trp
- rs199705103
- ClinGen CA6533969
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99968
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.75
- MetaLR 0.92
- MetaSVM 0.99
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available