K66E (p.Lys66Glu) variant of CLN3 (Battenin)
K66E (p.Lys66Glu) 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 0.22 / 1. The record also includes population frequency data and published literature.
K66E (p.Lys66Glu) variant details
- p.Lys66Glu
- rs963189449
- ClinGen CA279786566
- cosmic curated COSV99048
- ClinVar RCV001315650
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- AlphaMissense 0.06
- MetaLR 0.47
- MetaSVM -0.47
- CADD 4.93
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)