L61P (p.Leu61Pro) variant of SCN1A (P35498)
L61P (p.Leu61Pro) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sudden unexplained death in childhood. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
L61P (p.Leu61Pro) variant details
- p.Leu61Pro
- rs1553560766
- ClinGen CA317800
- ClinVar RCV001787423
- Ensembl rs1553560766
- Likely pathogenic
- Sudden unexplained death in childhood
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Sudden unexplained death in childhood)
- EBI: Likely pathogenic (in DRVT)
- UniProt: Likely pathogenic (in DRVT)
- Structural context available