I5L (p.Ile5Leu) variant of VCAN (Versican core protein)
I5L (p.Ile5Leu) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I5L (p.Ile5Leu) variant details
- p.Ile5Leu
- gnomAD 5-83483531-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.08
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available