V68M (p.Val68Met) variant of ITGA2B (Integrin alpha-IIb)
V68M (p.Val68Met) 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 0.79 / 1. The record also includes population frequency data and structural context.
V68M (p.Val68Met) variant details
- p.Val68Met
- rs2048647163
- ClinGen CA399806517
- ClinVar RCV001225234
- Ensembl rs2048647163
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.74
- MetaLR 0.82
- MetaSVM 0.82
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available