C138* (p.Cys138Ter) variant of ITGA2B (Integrin alpha-IIb)
C138* (p.Cys138Ter) in ITGA2B (Integrin alpha-IIb) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C138* (p.Cys138Ter) variant details
- p.Cys138Ter
- rs2048642260
- ClinGen CA399806043
- ClinVar RCV001059843
- Ensembl rs2048642260
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available