W144* (p.Trp144Ter) variant of ITGA2B (Integrin alpha-IIb)
W144* (p.Trp144Ter) in ITGA2B (Integrin alpha-IIb) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W144* (p.Trp144Ter) variant details
- p.Trp144Ter
- rs2143489377
- ClinGen CA399805999
- ClinVar RCV001803423
- Ensembl rs2143489377
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available