G43A (p.Gly43Ala) variant of VDR (Vitamin D3 receptor)
G43A (p.Gly43Ala) 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 record also includes structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- cosmic curated COSV57468
- TOPMed rs1192464857
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available