Y17Y (p.Tyr17Tyr) variant of ETV6 (Transcription factor ETV6)
Y17Y (p.Tyr17Tyr) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Y17Y (p.Tyr17Tyr) variant details
- p.Tyr17Tyr
- rs144055004
- gnomAD 12-11752467-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.39
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available