E15K (p.Glu15Lys) variant of CLN3 (Battenin)
E15K (p.Glu15Lys) 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 0.51 / 1. The record also includes population frequency data and published literature.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs1228953213
- ClinGen CA395347507
- ClinVar RCV003104688
- gnomAD rs1228953213
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM 0.68
- CADD 22.70
- PolyPhen-2 0.61
- SIFT 0.06
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)