S29Y (p.Ser29Tyr) variant of ETV6 (Transcription factor ETV6)
S29Y (p.Ser29Tyr) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- gnomAD 12-11752502-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.23
- CADD 23.90
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available