T59I (p.Thr59Ile) variant of VDR (Vitamin D3 receptor)
T59I (p.Thr59Ile) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. 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.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- rs145002466
- ClinGen CA6534007
- ClinVar RCV000890140
- ClinVar RCV003940659
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.68
- MetaLR 0.91
- MetaSVM 0.83
- CADD 24.80
- PolyPhen-2 0.57
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.12)
- Structural context available