C96S (p.Cys96Ser) variant of ITGA2B (Integrin alpha-IIb)
C96S (p.Cys96Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C96S (p.Cys96Ser) variant details
- p.Cys96Ser
- rs765904826
- ClinGen CA8603504
- ClinVar RCV003459892
- ExAC rs765904826
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.80
- MetaLR 0.88
- MetaSVM 0.97
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available