Q109* (p.Gln109Ter) variant of REEP1 (Q9H902)
Q109* (p.Gln109Ter) in REEP1 (Q9H902) 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 0.86 / 1. The record also includes population frequency data and structural context.
Q109* (p.Gln109Ter) variant details
- p.Gln109Ter
- NCI-TCGA Cosmic COSV5125
- cosmic curated COSV51255
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 41.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available