E2K (p.Glu2Lys) variant of VDR (Vitamin D3 receptor)
E2K (p.Glu2Lys) 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 0.63 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- ExAC rs779954117
- gnomAD rs779954117
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.50
- MetaLR 0.76
- MetaSVM 0.66
- CADD 23.90
- PolyPhen-2 0.12
- SIFT 0.01
- 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 0.00019)
- Structural context available