Q101K (p.Gln101Lys) variant of SLC25A20 (O43772)
Q101K (p.Gln101Lys) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q101K (p.Gln101Lys) variant details
- p.Gln101Lys
- ExAC rs752042051
- gnomAD rs752042051
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available