L50L (p.Leu50Leu) variant of ETV6 (Transcription factor ETV6)
L50L (p.Leu50Leu) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs1292426806
- gnomAD 12-11752566-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 11.90
- Population evidence available
- Structural context available
- Literature evidence available