G62E (p.Gly62Glu) variant of ITGA2B (Integrin alpha-IIb)
G62E (p.Gly62Glu) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
G62E (p.Gly62Glu) variant details
- p.Gly62Glu
- rs2143506283
- ClinGen CA399806756
- ClinVar RCV001762776
- Ensembl rs2143506283
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.17
- MetaLR 0.43
- MetaSVM -0.51
- PolyPhen-2 0.99
- SIFT 0.25
- MutPred 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available