G16E (p.Gly16Glu) variant of CLN3 (Battenin)
G16E (p.Gly16Glu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- UniProt: Uncertain significance