I16L (p.Ile16Leu) variant of VCAN (Versican core protein)
I16L (p.Ile16Leu) in VCAN (Versican core protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I16L (p.Ile16Leu) variant details
- p.Ile16Leu
- 1000Genomes rs573332559
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.03
- CADD 14.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available