Y126F (p.Tyr126Phe) variant of ETV4 (ETS translocation variant 4)
Y126F (p.Tyr126Phe) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar 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.
Y126F (p.Tyr126Phe) variant details
- p.Tyr126Phe
- cosmic curated COSV10518
- ExAC rs769425014
- TOPMed rs769425014
- gnomAD rs769425014
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- CADD 25.40
- PolyPhen-2 0.78
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)