V330I (p.Val330Ile) variant of CLN3 (Battenin)
V330I (p.Val330Ile) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Juvenile neuronal ceroid lipofuscinosis; Retinal dystro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V330I (p.Val330Ile) variant details
- p.Val330Ile
- rs386833744
- ClinGen CA313722
- ClinVar RCV000187016
- ClinVar RCV000504655
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Juvenile neuronal ceroid lipofuscinosis; Retinal dystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Juvenile neuronal ceroid lipofuscinosis)
- 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: 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)