L34M (p.Leu34Met) variant of ITGA2B (Integrin alpha-IIb)
L34M (p.Leu34Met) 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 0.53 / 1. The record also includes population frequency data and structural context.
L34M (p.Leu34Met) variant details
- p.Leu34Met
- ExAC rs767563149
- gnomAD rs767563149
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.59
- MetaLR 0.80
- MetaSVM 0.56
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available