C601G (p.Cys601Gly) variant of ITGB3 (Integrin beta-3)
C601G (p.Cys601Gly) 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 0.98 / 1. The record also includes structural context.
C601G (p.Cys601Gly) variant details
- p.Cys601Gly
- rs747534508
- ClinGen CA400032570
- ClinVar RCV001290476
- ExAC rs747534508
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Structural context available