C549S (p.Cys549Ser) variant of ITGB3 (Integrin beta-3)
C549S (p.Cys549Ser) 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 0.80 / 1. The record also includes population frequency data and structural context.
C549S (p.Cys549Ser) variant details
- p.Cys549Ser
- rs1395325049
- ClinGen CA400030198
- ClinVar RCV001290468
- gnomAD rs1395325049
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available