R9* (p.Arg9Ter) variant of KRT4 (Keratin, type II cytoskeletal 4)
R9* (p.Arg9Ter) in KRT4 (Keratin, type II cytoskeletal 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- rs886049646
- NCI-TCGA Cosmic COSV5340
- TOPMed rs886049646
- gnomAD rs886049646
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available