E295K (p.Glu295Lys) variant of CLN3 (Battenin)
E295K (p.Glu295Lys) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Juvenile neuronal ceroid lipofuscinosis; Inborn genetic diseases; Retinal dystro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E295K (p.Glu295Lys) variant details
- p.Glu295Lys
- rs121434286
- ClinGen CA116344
- ClinVar RCV000003735
- ClinVar RCV000055839
- Pathogenic
- Juvenile neuronal ceroid lipofuscinosis; Inborn genetic diseases; Retinal dystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 22.70
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Pathogenic (Juvenile neuronal ceroid lipofuscinosis; Inborn genetic diseases)
- EBI: Pathogenic (in CLN3)
- UniProt: Pathogenic (in CLN3)
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). (PMID 10332042)
- Cited in: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the… (PMID 21990111)