N49K (p.Asn49Lys) variant of CLN3 (Battenin)
N49K (p.Asn49Lys) 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 3; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N49K (p.Asn49Lys) variant details
- p.Asn49Lys
- rs571216643
- ClinGen CA395346538
- ClinVar RCV001526712
- ClinVar RCV001873711
- Uncertain significance
- Neuronal ceroid lipofuscinosis 3; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 3; Neuronal ceroid lipofuscinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)