G159S (p.Gly159Ser) variant of ITGA2B (Integrin alpha-IIb)
G159S (p.Gly159Ser) in ITGA2B (Integrin alpha-IIb) 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 0.76 / 1. The record also includes population frequency data and structural context.
G159S (p.Gly159Ser) variant details
- p.Gly159Ser
- rs773089115
- ClinGen CA8603454
- ClinVar RCV002511534
- ExAC rs773089115
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.73
- MetaLR 0.73
- MetaSVM 0.62
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available