G18E (p.Gly18Glu) variant of ITGB3 (Integrin beta-3)
G18E (p.Gly18Glu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- TOPMed rs1444188478
- gnomAD rs1444188478
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- MetaLR 0.08
- MetaSVM -1.08
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available