E21E (p.Glu21Glu) variant of ETV6 (Transcription factor ETV6)
E21E (p.Glu21Glu) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E21E (p.Glu21Glu) variant details
- p.Glu21Glu
- gnomAD 12-11752479-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 10.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available