T17S (p.Thr17Ser) variant of ETV4 (ETS translocation variant 4)
T17S (p.Thr17Ser) 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 0.29 / 1. The record also includes population frequency data.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- rs773308888
- ClinGen CA399721178
- ClinVar RCV004383171
- 1000Genomes rs773308888
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)