R22P (p.Arg22Pro) variant of VDR (Vitamin D3 receptor)
R22P (p.Arg22Pro) 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 0.84 / 1. The record also includes population frequency data and structural context.
R22P (p.Arg22Pro) variant details
- p.Arg22Pro
- rs201676749
- ClinGen CA384515058
- ClinVar RCV002949609
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.84
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available