R405W (p.Arg405Trp) variant of CLN3 (Battenin)
R405W (p.Arg405Trp) 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; Retinal dystrophy; not provided. 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.
R405W (p.Arg405Trp) variant details
- p.Arg405Trp
- rs139842473
- ClinGen CA7980640
- ClinVar RCV000487188
- ClinVar RCV000504756
- Pathogenic/Likely pathogenic
- Juvenile neuronal ceroid lipofuscinosis; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Juvenile neuronal ceroid lipofuscinosis; Retinal dystrophy; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)