E152K (p.Glu152Lys) variant of ITGA2B (Integrin alpha-IIb)
E152K (p.Glu152Lys) 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 0.50 / 1. The record also includes population frequency data and structural context.
E152K (p.Glu152Lys) variant details
- p.Glu152Lys
- rs2510084904
- ClinGen CA399805950
- ClinVar RCV003606206
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.41
- MetaLR 0.77
- MetaSVM 0.63
- CADD 24.20
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available