L673P (p.Leu673Pro) variant of SCN4A (Nav1.4)
L673P (p.Leu673Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of See cases; Arthrogryposis multiplex congenita; Fetal akinesia deformation sequen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
L673P (p.Leu673Pro) variant details
- p.Leu673Pro
- rs1597978607
- ClinGen CA400631560
- ClinVar RCV000855486
- Ensembl rs1597978607
- Likely pathogenic
- See cases; Arthrogryposis multiplex congenita; Fetal akinesia deformation sequen
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (See cases; Arthrogryposis multiplex congenita; Fetal akinesia de)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available