G189R (p.Gly189Arg) variant of CLN3 (Battenin)
G189R (p.Gly189Arg) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G189R (p.Gly189Arg) variant details
- p.Gly189Arg
- rs386833731
- ClinGen CA263707
- ClinVar RCV000049694
- ClinVar RCV001853045
- Pathogenic/Likely pathogenic
- Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3)
- EBI: Pathogenic (in CLN3)
- UniProt: Pathogenic (in CLN3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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: Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). (PMID 10332042)