R274L (p.Arg274Leu) variant of VDR (Vitamin D3 receptor)
R274L (p.Arg274Leu) 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.
R274L (p.Arg274Leu) variant details
- p.Arg274Leu
- rs121909796
- ClinGen CA119032
- ClinVar RCV000008193
- UniProt VAR 004664
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- 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: Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without… (PMID 3024987)