I68V (p.Ile68Val) variant of VDR (Vitamin D3 receptor)
I68V (p.Ile68Val) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I68V (p.Ile68Val) variant details
- p.Ile68Val
- ExAC rs779775712
- TOPMed rs779775712
- gnomAD rs779775712
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.70
- MetaLR 0.90
- MetaSVM 1.03
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available