R49R (p.Arg49Arg) variant of ETV6 (Transcription factor ETV6)
R49R (p.Arg49Arg) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R49R (p.Arg49Arg) variant details
- p.Arg49Arg
- gnomAD 12-11752563-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 13.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available