E17K (p.Glu17Lys) variant of CLN3 (Battenin)
E17K (p.Glu17Lys) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs386833726
- ClinGen CA313732
- cosmic curated COSV60491
- ClinVar RCV000505765
- Uncertain significance
- Inborn genetic diseases; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofus
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 24.00
- PolyPhen-2 0.68
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronal ceroid lipofuscinosis; Neurona)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00096)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)