V100A (p.Val100Ala) variant of VDR (Vitamin D3 receptor)
V100A (p.Val100Ala) 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 0.74 / 1. The record also includes population frequency data and structural context.
V100A (p.Val100Ala) variant details
- p.Val100Ala
- ExAC rs780886928
- TOPMed rs780886928
- gnomAD rs780886928
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.73
- MetaLR 0.91
- MetaSVM 0.94
- CADD 27.90
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available