L56L (p.Leu56Leu) variant of ETV6 (Transcription factor ETV6)
L56L (p.Leu56Leu) in ETV6 (Transcription factor ETV6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- gnomAD 12-11839142-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 15.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available