M52T (p.Met52Thr) variant of VDR (Vitamin D3 receptor)
M52T (p.Met52Thr) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar 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.
M52T (p.Met52Thr) variant details
- p.Met52Thr
- cosmic curated COSV57467
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- UniProt: Uncertain significance
- Structural context available