D29G (p.Asp29Gly) variant of VDR (Vitamin D3 receptor)
D29G (p.Asp29Gly) 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 not provided; Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- rs1280836121
- ClinGen CA384514964
- ClinVar RCV001221893
- ClinVar RCV002484206
- Uncertain significance
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available