P176H (p.Pro176His) variant of ITGA2B (Integrin alpha-IIb)
P176H (p.Pro176His) 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 0.85 / 1. The record also includes population frequency data and structural context.
P176H (p.Pro176His) variant details
- p.Pro176His
- rs148327798
- ClinGen CA8603447
- ClinVar RCV001225246
- ESP rs148327798
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.91
- AlphaMissense 0.43
- MetaLR 0.88
- MetaSVM 0.93
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic (in GT1)
- UniProt: Likely pathogenic (in GT1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available