E79D (p.Glu79Asp) variant of ITGA2B (Integrin alpha-IIb)
E79D (p.Glu79Asp) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E79D (p.Glu79Asp) variant details
- p.Glu79Asp
- Ensembl rs1434720400
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.16
- MetaLR 0.46
- MetaSVM -0.35
- CADD 17.50
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available