R169G (p.Arg169Gly) variant of ETFA (P13804)
R169G (p.Arg169Gly) in ETFA (P13804) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
R169G (p.Arg169Gly) variant details
- p.Arg169Gly
- ESP rs369713466
- ExAC rs369713466
- TOPMed rs369713466
- gnomAD rs369713466
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available