H281P (p.His281Pro) variant of ITGB3 (Integrin beta-3)
H281P (p.His281Pro) 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 0.94 / 1. The record also includes structural context.
H281P (p.His281Pro) variant details
- p.His281Pro
- rs2143098907
- ClinGen CA400024802
- ClinVar RCV001803428
- Ensembl rs2143098907
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available