A104E (p.Ala104Glu) variant of MMADHC (Q9H3L0)
A104E (p.Ala104Glu) in MMADHC (Q9H3L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
A104E (p.Ala104Glu) variant details
- p.Ala104Glu
- 1000Genomes rs533388008
- ExAC rs533388008
- TOPMed rs533388008
- gnomAD rs533388008
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available