L28F (p.Leu28Phe) variant of ETV4 (ETS translocation variant 4)
L28F (p.Leu28Phe) 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 0.28 / 1. The record also includes population frequency data.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs1218231250
- ClinGen CA399720858
- ClinVar RCV004195499
- TOPMed rs1218231250
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.11
- CADD 20.00
- PolyPhen-2 0.27
- SIFT 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)