Y344S (p.Tyr344Ser) variant of ITGB3 (Integrin beta-3)
Y344S (p.Tyr344Ser) 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.
Y344S (p.Tyr344Ser) variant details
- p.Tyr344Ser
- rs2065118116
- ClinGen CA400025814
- ClinVar RCV001580247
- ClinVar RCV002573261
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available