I69T (p.Ile69Thr) variant of VCAN (Versican core protein)
I69T (p.Ile69Thr) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- rs1465864734
- ClinGen CA360295239
- ClinVar RCV002701186
- TOPMed rs1465864734
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.47
- CADD 27.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available