D133E (p.Asp133Glu) variant of ITGA2B (Integrin alpha-IIb)
D133E (p.Asp133Glu) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D133E (p.Asp133Glu) variant details
- p.Asp133Glu
- rs2510085154
- ClinGen CA399806084
- ClinVar RCV003234998
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.29
- MetaLR 0.51
- MetaSVM -0.16
- CADD 24.70
- PolyPhen-2 0.17
- SIFT 0.17
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available