K66Q (p.Lys66Gln) variant of CLN3 (Battenin)
K66Q (p.Lys66Gln) 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 0.40 / 1. The record also includes published literature.
K66Q (p.Lys66Gln) variant details
- p.Lys66Gln
- rs963189449
- ClinGen CA395346434
- ClinVar RCV002861357
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.06
- MetaLR 0.47
- MetaSVM -0.47
- PolyPhen-2 0.00
- SIFT 0.86
- EVE 0.06
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)