M1370T (p.Met1370Thr) variant of SCN4A (Nav1.4)
M1370T (p.Met1370Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
M1370T (p.Met1370Thr) variant details
- p.Met1370Thr
- rs1908593639
- ClinGen CA400616722
- ClinVar RCV001053370
- Ensembl rs1908593639
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)