R63L (p.Arg63Leu) variant of VCAN (Versican core protein)
R63L (p.Arg63Leu) 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 0.70 / 1. The record also includes population frequency data and structural context.
R63L (p.Arg63Leu) variant details
- p.Arg63Leu
- rs142148754
- ClinGen CA360295161
- ClinVar RCV001238304
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.62
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available