T80K (p.Thr80Lys) variant of CLN3 (Battenin)
T80K (p.Thr80Lys) in CLN3 (Battenin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
T80K (p.Thr80Lys) variant details
- p.Thr80Lys
- ExAC rs775999656
- TOPMed rs775999656
- gnomAD rs775999656
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance