R334H (p.Arg334His) variant of CLN3 (Battenin)
R334H (p.Arg334His) 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; Neuronal ceroid lipofuscinosis; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R334H (p.Arg334His) variant details
- p.Arg334His
- rs386833695
- ClinGen CA263597
- cosmic curated COSV10814
- ClinVar RCV000049656
- Pathogenic/Likely pathogenic
- Juvenile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Juvenile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofus)
- EBI: Pathogenic (in CLN3)
- UniProt: Pathogenic (in CLN3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the… (PMID 21990111)
- Cited in: Spectrum of mutations in the Batten disease gene, CLN3. (PMID 9311735)