P115L (p.Pro115Leu) variant of ETV4 (ETS translocation variant 4)
P115L (p.Pro115Leu) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
P115L (p.Pro115Leu) variant details
- p.Pro115Leu
- TOPMed rs1157046316
- gnomAD rs1157046316
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0007)