Q168* (p.Gln168Ter) variant of C9ORF72 (Q96LT7)
Q168* (p.Gln168Ter) in C9ORF72 (Q96LT7) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q168* (p.Gln168Ter) variant details
- p.Gln168Ter
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 52.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available