D71G (p.Asp71Gly) variant of VDR (Vitamin D3 receptor)
D71G (p.Asp71Gly) 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 0.75 / 1. The record also includes population frequency data and structural context.
D71G (p.Asp71Gly) variant details
- p.Asp71Gly
- rs767290901
- ClinGen CA6533997
- ClinVar RCV001369136
- ClinVar RCV005005889
- Uncertain significance
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.79
- MetaLR 0.87
- MetaSVM 0.77
- CADD 26.80
- PolyPhen-2 0.74
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available