G118D (p.Gly118Asp) variant of CLN3 (Battenin)
G118D (p.Gly118Asp) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
G118D (p.Gly118Asp) variant details
- p.Gly118Asp
- rs753305901
- ClinGen CA7980965
- ClinVar RCV001241267
- ExAC rs753305901
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.20
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)