G201S (p.Gly201Ser) variant of ITGA2B (Integrin alpha-IIb)
G201S (p.Gly201Ser) 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 0.69 / 1. The record also includes structural context.
G201S (p.Gly201Ser) variant details
- p.Gly201Ser
- rs2048635741
- ClinGen CA399805612
- ClinVar RCV001290450
- Ensembl rs2048635741
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.59
- MetaLR 0.65
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available