Y27F (p.Tyr27Phe) variant of ETV6 (Transcription factor ETV6)
Y27F (p.Tyr27Phe) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y27F (p.Tyr27Phe) variant details
- p.Tyr27Phe
- gnomAD 12-11752496-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.04
- CADD 19.70
- PolyPhen-2 0.02
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available