M1481K (p.Met1481Lys) variant of SCN8A (Nav1.6)
M1481K (p.Met1481Lys) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 13; Cognitive impairment with or wit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
M1481K (p.Met1481Lys) variant details
- p.Met1481Lys
- rs1555228912
- ClinVar RCV004566611
- ClinVar RCV004566612
- ClinVar RCV004566613
- Likely pathogenic
- Developmental and epileptic encephalopathy, 13; Cognitive impairment with or wit
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 13; Cognitive impair)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)