C532R (p.Cys532Arg) variant of ITGB3 (Integrin beta-3)
C532R (p.Cys532Arg) 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 0.67 / 1. The record also includes population frequency data and structural context.
C532R (p.Cys532Arg) variant details
- p.Cys532Arg
- rs1397448267
- ClinGen CA400029953
- ClinVar RCV001225242
- TOPMed rs1397448267
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic (in GT2)
- UniProt: Likely pathogenic (in GT2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available