S50F (p.Ser50Phe) variant of ETV4 (ETS translocation variant 4)
S50F (p.Ser50Phe) 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 0.52 / 1. The record also includes population frequency data.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- rs370228494
- ClinGen CA8592471
- cosmic curated COSV60043
- ClinVar RCV004383169
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.31
- CADD 30.00
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)