S50C (p.Ser50Cys) variant of ETV4 (ETS translocation variant 4)
S50C (p.Ser50Cys) 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 0.53 / 1. The record also includes population frequency data.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- 1000Genomes rs370228494
- ESP rs370228494
- ExAC rs370228494
- TOPMed rs370228494
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.33
- CADD 29.30
- PolyPhen-2 0.97
- SIFT 0.00
- 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)