R19G (p.Arg19Gly) variant of SCN1A (P35498)
R19G (p.Arg19Gly) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs796053096
- ClinGen CA317796
- ClinVar RCV000189087
- gnomAD rs796053096
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.19
- MetaLR 0.89
- MetaSVM 1.19
- PolyPhen-2 0.31
- SIFT 0.00
- EVE 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available