L54L (p.Leu54Leu) variant of ETV6 (Transcription factor ETV6)
L54L (p.Leu54Leu) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- gnomAD 12-11752576-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available