F54L (p.Phe54Leu) variant of ETV4 (ETS translocation variant 4)
F54L (p.Phe54Leu) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- Ensembl rs1971728566
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.52
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)