R101L (p.Arg101Leu) variant of SCN1A (P35498)
R101L (p.Arg101Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
R101L (p.Arg101Leu) variant details
- p.Arg101Leu
- rs121917918
- ClinGen CA349077140
- ClinVar RCV000518488
- Ensembl rs121917918
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available