E127* (p.Glu127Ter) variant of KRT12 (Keratin, type I cytoskeletal 12)
E127* (p.Glu127Ter) in KRT12 (Keratin, type I cytoskeletal 12) 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 0.76 / 1. The record also includes population frequency data and structural context.
E127* (p.Glu127Ter) variant details
- p.Glu127Ter
- NCI-TCGA Cosmic COSV5242
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 34.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available