L79F (p.Leu79Phe) variant of ETV1 (ETS translocation variant 1)
L79F (p.Leu79Phe) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L79F (p.Leu79Phe) variant details
- p.Leu79Phe
- cosmic curated COSV10941
- gnomAD rs1487823864
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.32
- CADD 27.20
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available