P23R (p.Pro23Arg) variant of ITGA2B (Integrin alpha-IIb)
P23R (p.Pro23Arg) 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 ITGA2B-related disorder. 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.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs201184269
- ClinGen CA399807007
- ClinVar RCV004550680
- 1000Genomes rs201184269
- Uncertain significance
- ITGA2B-related disorder
- 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 (ITGA2B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available