G70E (p.Gly70Glu) variant of CLN3 (Battenin)
G70E (p.Gly70Glu) 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 0.45 / 1. The record also includes population frequency data and published literature.
G70E (p.Gly70Glu) variant details
- p.Gly70Glu
- rs747526330
- ClinGen CA7981028
- NCI-TCGA Cosmic COSV6110
- cosmic curated COSV61104
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)