E56* (p.Glu56Ter) variant of DNMT1 (P26358)
E56* (p.Glu56Ter) in DNMT1 (P26358) 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.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- NCI-TCGA Cosmic COSV6158
- cosmic curated COSV61583
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available