E152G (p.Glu152Gly) variant of ITGA2B (Integrin alpha-IIb)
E152G (p.Glu152Gly) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E152G (p.Glu152Gly) variant details
- p.Glu152Gly
- gnomAD rs1372331896
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.41
- MetaLR 0.68
- MetaSVM 0.45
- CADD 25.00
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available