P43L (p.Pro43Leu) variant of VCAN (Versican core protein)
P43L (p.Pro43Leu) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- ESP rs146100935
- ExAC rs146100935
- TOPMed rs146100935
- gnomAD rs146100935
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.64
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available