G605D (p.Gly605Asp) variant of ITGB3 (Integrin beta-3)
G605D (p.Gly605Asp) 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.
G605D (p.Gly605Asp) variant details
- p.Gly605Asp
- rs2143130130
- ClinGen CA400032596
- ClinVar RCV002254796
- Ensembl rs2143130130
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic (in GT2)
- UniProt: Likely pathogenic (in GT2)
- Structural context available