Q12Q (p.Gln12Gln) variant of ETV6 (Transcription factor ETV6)
Q12Q (p.Gln12Gln) in ETV6 (Transcription factor ETV6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- rs757789814
- gnomAD 12-11752452-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available