I1157N (p.Ile1157Asn) variant of SCN4A (Nav1.4)
I1157N (p.Ile1157Asn) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SCN4A-related non-dystrophic myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
I1157N (p.Ile1157Asn) variant details
- p.Ile1157Asn
- rs1908691206
- ClinGen CA400618722
- ClinVar RCV002267666
- TOPMed rs1908691206
- Likely pathogenic
- SCN4A-related non-dystrophic myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Likely pathogenic (SCN4A-related non-dystrophic myotonia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available