W30* (p.Trp30Ter) variant of ITGA2B (Integrin alpha-IIb)
W30* (p.Trp30Ter) 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 0.51 / 1. The record also includes population frequency data and structural context.
W30* (p.Trp30Ter) variant details
- p.Trp30Ter
- gnomAD rs1418627739
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available