R8Q (p.Arg8Gln) variant of CLN3 (Battenin)
R8Q (p.Arg8Gln) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs2506530406
- ClinGen CA395347546
- ClinVar RCV003088803
- Uncertain significance
- not specified; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)