D416G (p.Asp416Gly) variant of CLN3 (Battenin)
D416G (p.Asp416Gly) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D416G (p.Asp416Gly) variant details
- p.Asp416Gly
- rs386833703
- ClinGen CA263624
- ClinVar RCV000049664
- ClinVar RCV003317069
- Pathogenic/Likely pathogenic
- Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)