R54P (p.Arg54Pro) variant of VDR (Vitamin D3 receptor)
R54P (p.Arg54Pro) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- ESP rs148368146
- ExAC rs148368146
- TOPMed rs148368146
- gnomAD rs148368146
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.90
- MetaLR 0.94
- MetaSVM 1.08
- CADD 28.90
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available