V71A (p.Val71Ala) variant of VCAN (Versican core protein)
V71A (p.Val71Ala) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V71A (p.Val71Ala) variant details
- p.Val71Ala
- TOPMed rs753208147
- gnomAD rs753208147
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- CADD 20.80
- PolyPhen-2 0.09
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available