P1719R (p.Pro1719Arg) variant of SCN8A (Nav1.6)
P1719R (p.Pro1719Arg) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myoclonus, familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P1719R (p.Pro1719Arg) variant details
- p.Pro1719Arg
- rs1565934070
- ClinGen CA384883977
- ClinVar RCV000761580
- ClinVar RCV003992384
- Pathogenic
- Myoclonus, familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Myoclonus, familial, 2)
- EBI: Pathogenic (in MYOCL2)
- UniProt: Pathogenic (in MYOCL2)
- Structural context available
- Cited in: Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. (PMID 29726066)