R54W (p.Arg54Trp) variant of VDR (Vitamin D3 receptor)
R54W (p.Arg54Trp) 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 0.72 / 1. The record also includes population frequency data and structural context.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs1442369494
- ClinGen CA384511729
- cosmic curated COSV10955
- ClinVar RCV003860714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.84
- MetaLR 0.94
- MetaSVM 1.05
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available