E92K (p.Glu92Lys) variant of VDR (Vitamin D3 receptor)
E92K (p.Glu92Lys) 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 0.88 / 1. The record also includes population frequency data and structural context.
E92K (p.Glu92Lys) variant details
- p.Glu92Lys
- rs1211812683
- ClinGen CA384511265
- ClinVar RCV001109684
- TOPMed rs1211812683
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.05
- CADD 28.60
- PolyPhen-2 0.99
- 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 East Asian population (allele frequency 7.6e-05)
- Structural context available