R22W (p.Arg22Trp) variant of VDR (Vitamin D3 receptor)
R22W (p.Arg22Trp) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs199929033
- ClinGen CA6534088
- cosmic curated COSV57468
- ClinVar RCV001111983
- Conflicting interpretations
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.82
- MetaLR 0.93
- MetaSVM 1.03
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available