L27P (p.Leu27Pro) variant of CLN3 (Battenin)
L27P (p.Leu27Pro) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis. The record also includes published literature.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- rs2506527055
- ClinGen CA395347093
- ClinVar RCV002671258
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)