M1476T (p.Met1476Thr) variant of SCN4A (Nav1.4)
M1476T (p.Met1476Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyperkalemic periodic paralysis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
M1476T (p.Met1476Thr) variant details
- p.Met1476Thr
- rs1064795409
- ClinGen CA16620554
- ClinVar RCV000484396
- ClinVar RCV001061560
- Pathogenic/Likely pathogenic
- Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.40
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Hyperkalemic periodic paralysis; not provided)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)