N1297K (p.Asn1297Lys) variant of SCN4A (Nav1.4)
N1297K (p.Asn1297Lys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Paramyotonia congenita of Von Eulenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
N1297K (p.Asn1297Lys) variant details
- p.Asn1297Lys
- rs121908560
- ClinGen CA117854
- ClinVar RCV000006285
- ClinVar RCV003996078
- Pathogenic
- Paramyotonia congenita of Von Eulenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Paramyotonia congenita of Von Eulenburg)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. (PMID 18203179)
- Cited in: Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. (PMID 10218481)