Q44* (p.Gln44Ter) variant of OCRL (Q01968)
Q44* (p.Gln44Ter) in OCRL (Q01968) 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 0.81 / 1. The record also includes population frequency data and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10084
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 39.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available