E92G (p.Glu92Gly) variant of ITGA2B (Integrin alpha-IIb)
E92G (p.Glu92Gly) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E92G (p.Glu92Gly) variant details
- p.Glu92Gly
- ExAC rs763130236
- gnomAD rs763130236
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.13
- MetaLR 0.42
- MetaSVM -0.60
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available