Q101E (p.Gln101Glu) variant of SLC25A20 (O43772)
Q101E (p.Gln101Glu) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q101E (p.Gln101Glu) variant details
- p.Gln101Glu
- ExAC rs752042051
- gnomAD rs752042051
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available