P23H (p.Pro23His) variant of ITGA2B (Integrin alpha-IIb)
P23H (p.Pro23His) 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 0.61 / 1. The record also includes population frequency data and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- rs201184269
- ClinGen CA399807006
- ClinVar RCV001290466
- 1000Genomes rs201184269
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.11
- MetaLR 0.82
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.27
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available