Q7Q (p.Gln7Gln) variant of ETV6 (Transcription factor ETV6)
Q7Q (p.Gln7Gln) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q7Q (p.Gln7Gln) variant details
- p.Gln7Gln
- gnomAD 12-11650148-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available