P23L (p.Pro23Leu) variant of ITGA2B (Integrin alpha-IIb)
P23L (p.Pro23Leu) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- 1000Genomes rs201184269
- ExAC rs201184269
- TOPMed rs201184269
- gnomAD rs201184269
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.35
- AlphaMissense 0.11
- MetaLR 0.82
- MetaSVM 0.70
- CADD 12.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available