E295G (p.Glu295Gly) variant of CLN3 (Battenin)
E295G (p.Glu295Gly) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
E295G (p.Glu295Gly) variant details
- p.Glu295Gly
- rs2141703722
- ClinGen CA395344438
- ClinVar RCV001885680
- Ensembl rs2141703722
- Likely pathogenic
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.62
- MetaLR 0.96
- MetaSVM 1.21
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Neuronal ceroid lipofuscinosis)
- EBI: Likely pathogenic (in CLN3)
- UniProt: Likely pathogenic (in CLN3)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)