A56T (p.Ala56Thr) variant of VDR (Vitamin D3 receptor)
A56T (p.Ala56Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- ExAC rs769876033
- TOPMed rs769876033
- gnomAD rs769876033
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.69
- MetaLR 0.85
- MetaSVM 0.89
- CADD 24.70
- PolyPhen-2 0.35
- SIFT 0.19
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available