M55L (p.Met55Leu) variant of CLN3 (Battenin)
M55L (p.Met55Leu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Juvenile neuronal ceroid lipofuscinosis.
M55L (p.Met55Leu) variant details
- p.Met55Leu
- ExAC rs760481173
- TOPMed rs760481173
- gnomAD rs760481173
- Uncertain significance
- Juvenile neuronal ceroid lipofuscinosis
- Missense
- ClinVar: Uncertain significance (Juvenile neuronal ceroid lipofuscinosis)
- UniProt: Uncertain significance