G3D (p.Gly3Asp) variant of CLN3 (Battenin)
G3D (p.Gly3Asp) 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 0.35 / 1. The record also includes population frequency data and published literature.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- rs756062000
- ClinGen CA7981126
- ClinVar RCV000463414
- ClinVar RCV005614408
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 17.70
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)