E18G (p.Glu18Gly) variant of CLN3 (Battenin)
E18G (p.Glu18Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- rs2046314460
- ClinGen CA395347164
- ClinVar RCV001325663
- Ensembl rs2046314460
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- AlphaMissense 0.08
- MetaLR 0.76
- MetaSVM 0.54
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.15
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)