G3S (p.Gly3Ser) variant of CLN3 (Battenin)
G3S (p.Gly3Ser) 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 0.54 / 1. The record also includes published literature.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- rs1398814860
- ClinGen CA395347579
- ClinVar RCV001997578
- TOPMed rs1398814860
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- AlphaMissense 0.14
- MetaLR 0.70
- MetaSVM 0.02
- PolyPhen-2 0.44
- SIFT 0.04
- MutPred 0.22
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)