C532F (p.Cys532Phe) variant of ITGB3 (Integrin beta-3)
C532F (p.Cys532Phe) 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 0.99 / 1. The record also includes structural context.
C532F (p.Cys532Phe) variant details
- p.Cys532Phe
- rs2065130922
- ClinGen CA400029961
- ClinVar RCV002511533
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic (in GT2)
- UniProt: Likely pathogenic (in GT2)
- Structural context available