V40L (p.Val40Leu) variant of VCAN (Versican core protein)
V40L (p.Val40Leu) in VCAN (Versican core protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- cosmic curated COSV54103
- ExAC rs763096343
- TOPMed rs763096343
- gnomAD rs763096343
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.20
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available