S17F (p.Ser17Phe) variant of ETV5 (ETS translocation variant 5)
S17F (p.Ser17Phe) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- TOPMed rs990808893
- gnomAD rs990808893
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.27
- CADD 28.00
- PolyPhen-2 0.58
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)