R14* (p.Arg14Ter) variant of ETV6 (Transcription factor ETV6)
R14* (p.Arg14Ter) in ETV6 (Transcription factor ETV6) is a protein-truncating change. 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.
R14* (p.Arg14Ter) variant details
- p.Arg14Ter
- gnomAD rs1475305922
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available