E92K (p.Glu92Lys) variant of ITGA2B (Integrin alpha-IIb)
E92K (p.Glu92Lys) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
E92K (p.Glu92Lys) variant details
- p.Glu92Lys
- NCI-TCGA Cosmic COSV5223
- Ensembl rs2143491299
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- MetaLR 0.32
- MetaSVM -0.86
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.045)
- Structural context available