R1135S (p.Arg1135Ser) variant of SCN4A (Nav1.4)
R1135S (p.Arg1135Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypokalemic periodic paralysis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R1135S (p.Arg1135Ser) variant details
- p.Arg1135Ser
- rs1287863349
- ClinGen CA400619397
- ClinVar RCV001090156
- TOPMed rs1287863349
- Likely pathogenic
- Hypokalemic periodic paralysis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Hypokalemic periodic paralysis, type 2)
- EBI: Likely pathogenic (in HOKPP2)
- UniProt: Likely pathogenic (in HOKPP2)
- Structural context available
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)