R1135P (p.Arg1135Pro) variant of SCN4A (Nav1.4)
R1135P (p.Arg1135Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Potassium-aggravated myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R1135P (p.Arg1135Pro) variant details
- p.Arg1135Pro
- rs527236150
- ClinGen CA400619393
- ClinVar RCV003486007
- Uncertain significance
- Potassium-aggravated myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Potassium-aggravated myotonia)
- EBI: Variant of uncertain significance (in HOKPP2)
- UniProt: Uncertain significance (in HOKPP2)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)