S47S (p.Ser47Ser) variant of ETV6 (Transcription factor ETV6)
S47S (p.Ser47Ser) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- gnomAD 12-11752557-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available