A3E (p.Ala3Glu) variant of ITGB3 (Integrin beta-3)
A3E (p.Ala3Glu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- TOPMed rs1286557894
- gnomAD rs1286557894
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- MetaLR 0.09
- MetaSVM -0.96
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 8.6e-06)
- Structural context available