D314Y (p.Asp314Tyr) variant of ITGB3 (Integrin beta-3)
D314Y (p.Asp314Tyr) 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 0.96 / 1. The record also includes structural context.
D314Y (p.Asp314Tyr) variant details
- p.Asp314Tyr
- rs2065117726
- ClinGen CA400025612
- ClinVar RCV001290470
- Ensembl rs2065117726
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available