R19K (p.Arg19Lys) variant of SCN1A (P35498)
R19K (p.Arg19Lys) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- rs1479913332
- ClinGen CA349243399
- ClinVar RCV006606466
- TOPMed rs1479913332
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available