E18D (p.Glu18Asp) variant of CLN3 (Battenin)
E18D (p.Glu18Asp) 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 0.13 / 1. The record also includes population frequency data and published literature.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- rs2141722130
- ClinGen CA395347162
- ClinVar RCV002037983
- Ensembl rs2141722130
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 9.93
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)