A1481D (p.Ala1481Asp) variant of SCN4A (Nav1.4)
A1481D (p.Ala1481Asp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
A1481D (p.Ala1481Asp) variant details
- p.Ala1481Asp
- rs763893717
- ClinGen CA400616016
- NCI-TCGA Cosmic COSV1014
- ClinVar RCV000698645
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene. (PMID 17212350)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)