R39R (p.Arg39Arg) variant of ETV6 (Transcription factor ETV6)
R39R (p.Arg39Arg) 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.
R39R (p.Arg39Arg) variant details
- p.Arg39Arg
- gnomAD 12-11752533-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 13.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available