N37K (p.Asn37Lys) variant of CLN3 (Battenin)
N37K (p.Asn37Lys) 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 0.84 / 1. The record also includes published literature.
N37K (p.Asn37Lys) variant details
- p.Asn37Lys
- rs776507846
- ClinGen CA395346903
- cosmic curated COSV60494
- ClinVar RCV002851207
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.84
- MetaLR 0.89
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)