M1493V (p.Met1493Val) variant of SCN4A (Nav1.4)
M1493V (p.Met1493Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
M1493V (p.Met1493Val) variant details
- p.Met1493Val
- rs1280474636
- ClinGen CA400615945
- ClinVar RCV000804101
- ClinVar RCV003141804
- Uncertain significance
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.83
- MetaLR 0.90
- MetaSVM 0.95
- PolyPhen-2 0.04
- SIFT 0.01
- EVE 0.63
- ClinVar: Uncertain significance (not provided; Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)