E148D (p.Glu148Asp) variant of ITGA2B (Integrin alpha-IIb)
E148D (p.Glu148Asp) 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 Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E148D (p.Glu148Asp) variant details
- p.Glu148Asp
- rs2048641862
- ClinGen CA399805973
- ClinVar RCV003825649
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.11
- MetaLR 0.51
- MetaSVM -0.58
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available