C9* (p.Cys9Ter) variant of TRMU (O75648)
C9* (p.Cys9Ter) in TRMU (O75648) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C9* (p.Cys9Ter) variant details
- p.Cys9Ter
- rs1297282365
- ClinGen CA411938951
- ClinVar RCV003577020
- ClinVar RCV005931557
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)