C39G (p.Cys39Gly) variant of ITGB3 (Integrin beta-3)
C39G (p.Cys39Gly) 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 0.72 / 1. The record also includes structural context.
C39G (p.Cys39Gly) variant details
- p.Cys39Gly
- rs1880497383
- ClinGen CA400031666
- ClinVar RCV001225279
- TOPMed rs1880497383
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.99
- MetaLR 0.57
- MetaSVM 0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available