Y16F (p.Tyr16Phe) variant of ETV4 (ETS translocation variant 4)
Y16F (p.Tyr16Phe) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
Y16F (p.Tyr16Phe) variant details
- p.Tyr16Phe
- rs1971775954
- ClinGen CA399721200
- ClinVar RCV004326352
- TOPMed rs1971775954
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)