E15K (p.Glu15Lys) variant of ITGA2B (Integrin alpha-IIb)
E15K (p.Glu15Lys) 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 0.41 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs779592785
- ClinGen CA8603557
- NCI-TCGA Cosmic COSV5223
- ClinVar RCV001128305
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.37
- MetaLR 0.64
- MetaSVM -0.27
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 0.78
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available