E329K (p.Glu329Lys) variant of VDR (Vitamin D3 receptor)
E329K (p.Glu329Lys) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E329K (p.Glu329Lys) variant details
- p.Glu329Lys
- rs121909802
- ClinGen CA119024
- ClinVar RCV000008189
- TOPMed rs121909802
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations… (PMID 11564167)