V40G (p.Val40Gly) variant of VCAN (Versican core protein)
V40G (p.Val40Gly) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V40G (p.Val40Gly) variant details
- p.Val40Gly
- ESP rs376593002
- ExAC rs376593002
- TOPMed rs376593002
- gnomAD rs376593002
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.73
- CADD 24.60
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available