E106K (p.Glu106Lys) variant of ITGA2B (Integrin alpha-IIb)
E106K (p.Glu106Lys) 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 1; Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E106K (p.Glu106Lys) variant details
- p.Glu106Lys
- rs775401384
- ClinGen CA8603487
- ClinVar RCV003501623
- ClinVar RCV003992776
- Uncertain significance
- Glanzmann thrombasthenia 1; Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.29
- MetaLR 0.47
- MetaSVM -0.22
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Glanzmann thrombasthenia 1; Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available