D72G (p.Asp72Gly) variant of VCAN (Versican core protein)
D72G (p.Asp72Gly) 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 0.34 / 1. The record also includes population frequency data and structural context.
D72G (p.Asp72Gly) variant details
- p.Asp72Gly
- rs963729586
- ClinGen CA121775330
- ClinVar RCV001349960
- TOPMed rs963729586
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.11
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available