I16V (p.Ile16Val) variant of VCAN (Versican core protein)
I16V (p.Ile16Val) 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 0.11 / 1. The record also includes population frequency data and structural context.
I16V (p.Ile16Val) variant details
- p.Ile16Val
- rs573332559
- ClinGen CA360293196
- ClinVar RCV001763340
- 1000Genomes rs573332559
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.03
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available