A16E (p.Ala16Glu) variant of ITGB3 (Integrin beta-3)
A16E (p.Ala16Glu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- TOPMed rs2064977275
- gnomAD rs2064977275
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- MetaLR 0.07
- MetaSVM -0.88
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available