C532Y (p.Cys532Tyr) variant of ITGB3 (Integrin beta-3)
C532Y (p.Cys532Tyr) 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 published literature and structural context.
C532Y (p.Cys532Tyr) variant details
- p.Cys532Tyr
- rs2065130922
- ClinGen CA400029958
- ClinVar RCV001225239
- UniProt VAR 030484
- 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: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Structural context available
- Cited in: Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting… (PMID 12353082)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)