R14R (p.Arg14Arg) variant of ETV6 (Transcription factor ETV6)
R14R (p.Arg14Arg) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- rs1475305922
- gnomAD 12-11752456-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 12.00
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available