R41G (p.Arg41Gly) variant of ETFDH (Q16134)
R41G (p.Arg41Gly) in ETFDH (Q16134) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- ExAC rs773668457
- TOPMed rs773668457
- gnomAD rs773668457
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available