R42R (p.Arg42Arg) variant of ETV6 (Transcription factor ETV6)
R42R (p.Arg42Arg) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R42R (p.Arg42Arg) variant details
- p.Arg42Arg
- rs1054923515
- gnomAD 12-11752542-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 14.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available