G187E (p.Gly187Glu) variant of CLN3 (Battenin)
G187E (p.Gly187Glu) 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 0.91 / 1. The record also includes published literature.
G187E (p.Gly187Glu) variant details
- p.Gly187Glu
- rs386833730
- ClinGen CA395345454
- ClinVar RCV003648590
- ClinVar RCV005616752
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance (in CLN3)
- UniProt: Uncertain significance (in CLN3)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)