P46L (p.Pro46Leu) variant of ETV4 (ETS translocation variant 4)
P46L (p.Pro46Leu) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- ExAC rs780316290
- gnomAD rs780316290
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.16
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.67
- Most common in the REMAINING population (allele frequency 1.7e-05)