I87V (p.Ile87Val) variant of VDR (Vitamin D3 receptor)
I87V (p.Ile87Val) 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 0.57 / 1. The record also includes population frequency data and structural context.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- rs387907555
- ClinGen CA216113
- ClinVar RCV000054612
- ClinVar RCV002477177
- Uncertain significance
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.58
- MetaLR 0.76
- MetaSVM 0.31
- CADD 23.80
- PolyPhen-2 0.40
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available