R334C (p.Arg334Cys) variant of CLN3 (Battenin)
R334C (p.Arg334Cys) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Juvenile neuronal ceroid lipofuscinosis; not provided; Neuronal ceroid lipofusci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R334C (p.Arg334Cys) variant details
- p.Arg334Cys
- rs386833694
- ClinGen CA263593
- ClinVar RCV000049655
- ClinVar RCV000588369
- Pathogenic/Likely pathogenic
- Juvenile neuronal ceroid lipofuscinosis; not provided; Neuronal ceroid lipofusci
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Juvenile neuronal ceroid lipofuscinosis; not provided; Neuronal)
- EBI: Pathogenic (in CLN3)
- UniProt: Pathogenic (in CLN3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor… (PMID 10924275)
- Cited in: Spectrum of mutations in the Batten disease gene, CLN3. (PMID 9311735)