F111L (p.Phe111Leu) variant of ETV1 (ETS translocation variant 1)
F111L (p.Phe111Leu) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F111L (p.Phe111Leu) variant details
- p.Phe111Leu
- ExAC rs774071237
- TOPMed rs774071237
- gnomAD rs774071237
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.11
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available