G34D (p.Gly34Asp) variant of VCAN (Versican core protein)
G34D (p.Gly34Asp) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- TOPMed rs1189580528
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.58
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available