R55L (p.Arg55Leu) variant of ETV6 (Transcription factor ETV6)
R55L (p.Arg55Leu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- TOPMed rs1378660612
- gnomAD rs1378660612
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.23
- CADD 32.00
- PolyPhen-2 0.81
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available