G3R (p.Gly3Arg) variant of CLN3 (Battenin)
G3R (p.Gly3Arg) 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 0.50 / 1. The record also includes population frequency data and published literature.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- rs1398814860
- ClinGen CA395347578
- ClinVar RCV002001655
- TOPMed rs1398814860
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.14
- MetaLR 0.70
- MetaSVM 0.02
- CADD 11.90
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)