I5V (p.Ile5Val) variant of VCAN (Versican core protein)
I5V (p.Ile5Val) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I5V (p.Ile5Val) variant details
- p.Ile5Val
- gnomAD 5-83483531-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available