A67A (p.Ala67Ala) variant of ETV6 (Transcription factor ETV6)
A67A (p.Ala67Ala) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A67A (p.Ala67Ala) variant details
- p.Ala67Ala
- rs143451658
- gnomAD 12-11839177-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available