P113L (p.Pro113Leu) variant of SCN1A (P35498)
P113L (p.Pro113Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
P113L (p.Pro113Leu) variant details
- p.Pro113Leu
- rs1553553462
- ClinGen CA349076987
- ClinVar RCV006465207
- Ensembl rs1553553462
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.76
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available