G3089R (p.Gly3089Arg) variant of VCAN (Versican core protein)
G3089R (p.Gly3089Arg) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wagner disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G3089R (p.Gly3089Arg) variant details
- p.Gly3089Arg
- rs2479126945
- ClinVar RCV004595296
- Likely pathogenic
- Wagner disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.47
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Wagner disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available