V219M (p.Val219Met) variant of ITGB3 (Integrin beta-3)
V219M (p.Val219Met) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
V219M (p.Val219Met) variant details
- p.Val219Met
- rs747116356
- ClinGen CA8623016
- cosmic curated COSV10894
- ClinVar RCV003222557
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- MetaLR 0.95
- MetaSVM 1.08
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available