K6* (p.Lys6Ter) variant of ETV4 (ETS translocation variant 4)
K6* (p.Lys6Ter) in ETV4 (ETS translocation variant 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
K6* (p.Lys6Ter) variant details
- p.Lys6Ter
- rs75202146
- ClinGen CA8592501
- cosmic curated COSV60045
- ClinVar RCV003943905
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 38.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)