L116F (p.Leu116Phe) variant of ETV4 (ETS translocation variant 4)
L116F (p.Leu116Phe) 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 0.30 / 1. The record also includes population frequency data.
L116F (p.Leu116Phe) variant details
- p.Leu116Phe
- rs1163096208
- ClinGen CA399719524
- ClinVar RCV004383170
- gnomAD rs1163096208
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)