V330F (p.Val330Phe) variant of CLN3 (Battenin)
V330F (p.Val330Phe) 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; Juvenile neuro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V330F (p.Val330Phe) variant details
- p.Val330Phe
- rs386833744
- ClinGen CA263744
- ClinVar RCV000049708
- ClinVar RCV001378302
- Pathogenic/Likely pathogenic
- Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3; Juvenile neuro
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.30
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Spectrum of mutations in the Batten disease gene, CLN3. (PMID 9311735)
- Cited in: Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). (PMID 10332042)