I5T (p.Ile5Thr) variant of VCAN (Versican core protein)
I5T (p.Ile5Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- rs766706928
- ClinGen CA3332353
- ClinVar RCV002011538
- ExAC rs766706928
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available