R74S (p.Arg74Ser) variant of VDR (Vitamin D3 receptor)
R74S (p.Arg74Ser) 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 Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R74S (p.Arg74Ser) variant details
- p.Arg74Ser
- rs762938778
- ClinGen CA384511475
- ClinVar RCV004442860
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.87
- MetaLR 0.93
- MetaSVM 1.08
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available