S73G (p.Ser73Gly) variant of ETV4 (ETS translocation variant 4)
S73G (p.Ser73Gly) 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 0.20 / 1. The record also includes population frequency data.
S73G (p.Ser73Gly) variant details
- p.Ser73Gly
- rs200281297
- ClinGen CA8592416
- ClinVar RCV004242620
- ExAC rs200281297
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.06
- CADD 23.60
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)