V1166A (p.Val1166Ala) variant of SCN4A (Nav1.4)
V1166A (p.Val1166Ala) 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 0.94 / 1. The record also includes structural context.
V1166A (p.Val1166Ala) variant details
- p.Val1166Ala
- rs2144779553
- ClinGen CA400618537
- ClinVar RCV002267667
- Ensembl rs2144779553
- Likely pathogenic
- SCN4A-related non-dystrophic myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (SCN4A-related non-dystrophic myotonia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available