P19R (p.Pro19Arg) variant of SCN8A (Q9UQD0)
P19R (p.Pro19Arg) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- rs1940951099
- ClinGen CA385227526
- ClinVar RCV001351855
- Ensembl rs1940951099
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.43
- MetaSVM -0.26
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available