G48E (p.Gly48Glu) variant of ETFA (P13804)
G48E (p.Gly48Glu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- 1000Genomes rs188554276
- ExAC rs188554276
- gnomAD rs188554276
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- ESM-1b 0.81
- AlphaMissense 0.42
- Population evidence available
- Structural context available