I8V (p.Ile8Val) variant of VCAN (Versican core protein)
I8V (p.Ile8Val) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- gnomAD rs1364115245
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.04
- CADD 18.00
- PolyPhen-2 0.34
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available