P113S (p.Pro113Ser) variant of SCN1A (Nav1.1)
P113S (p.Pro113Ser) in SCN1A (Nav1.1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRVT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P113S (p.Pro113Ser) variant details
- p.Pro113Ser
- rs794726711
- ClinGen CA349076990
- cosmic curated COSV57662
- ClinVar RCV006468781
- Pathogenic
- in DRVT
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available