L70L (p.Leu70Leu) variant of ETV6 (Transcription factor ETV6)
L70L (p.Leu70Leu) 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.
L70L (p.Leu70Leu) variant details
- p.Leu70Leu
- rs1453904386
- gnomAD 12-11839186-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 11.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available