P50L (p.Pro50Leu) variant of VCAN (Versican core protein)
P50L (p.Pro50Leu) 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 0.48 / 1. The record also includes population frequency data and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs1197442253
- ClinGen CA360295004
- ClinVar RCV002654428
- TOPMed rs1197442253
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.39
- CADD 24.60
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available