V17M (p.Val17Met) variant of ITGA2B (Integrin alpha-IIb)
V17M (p.Val17Met) 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.
V17M (p.Val17Met) variant details
- p.Val17Met
- TOPMed rs1285991850
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.18
- MetaLR 0.58
- MetaSVM -0.52
- CADD 9.12
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available