I15V (p.Ile15Val) variant of ETV6 (Transcription factor ETV6)
I15V (p.Ile15Val) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- gnomAD 12-11752459-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.096
- REVEL 0.02
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available