H305Q (p.His305Gln) variant of VDR (Vitamin D3 receptor)
H305Q (p.His305Gln) 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 0.81 / 1. The record also includes published literature and structural context.
H305Q (p.His305Gln) variant details
- p.His305Gln
- rs121909798
- ClinGen CA119036
- ClinVar RCV000008195
- UniProt VAR 004665
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.93
- MetaLR 0.90
- MetaSVM 0.93
- PolyPhen-2 0.75
- SIFT 0.12
- EVE 0.48
- ClinVar: Pathogenic (Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Structural context available
- Cited in: Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia. (PMID 28698609)
- Cited in: Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to… (PMID 8862631)