R70Q (p.Arg70Gln) variant of ETS1 (Protein C-ets-1)
R70Q (p.Arg70Gln) in ETS1 (Protein C-ets-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes experimental measurements and structural context.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- cosmic curated COSV60093
- ExAC rs773557919
- TOPMed rs773557919
- gnomAD rs773557919
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.146