R18W (p.Arg18Trp) variant of VDR (Vitamin D3 receptor)
R18W (p.Arg18Trp) 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; not specified; Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- rs147496897
- ClinGen CA6534099
- cosmic curated COSV57468
- ClinVar RCV001111985
- Conflicting interpretations
- not provided; not specified; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.63
- MetaLR 0.89
- MetaSVM 0.96
- CADD 26.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Vitamin D-dependent rickets type II)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0055)
- Structural context available