G181C (p.Gly181Cys) variant of ETFA (P13804)
G181C (p.Gly181Cys) 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 0.72 / 1. The record also includes structural context.
G181C (p.Gly181Cys) variant details
- p.Gly181Cys
- ESP rs374127169
- ExAC rs374127169
- TOPMed rs374127169
- gnomAD rs374127169
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- ESM-1b 1.00
- AlphaMissense 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available