G1456W (p.Gly1456Trp) variant of SCN4A (Nav1.4)
G1456W (p.Gly1456Trp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypokalemic periodic paralysis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G1456W (p.Gly1456Trp) variant details
- p.Gly1456Trp
- rs2144774834
- ClinGen CA400616153
- ClinVar RCV001808879
- Ensembl rs2144774834
- Likely pathogenic
- Hypokalemic periodic paralysis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Hypokalemic periodic paralysis, type 2)
- EBI: Likely pathogenic (in PMC)
- UniProt: Likely pathogenic (in PMC)
- Structural context available
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)