Y86C (p.Tyr86Cys) variant of SCN4A (Nav1.4)
Y86C (p.Tyr86Cys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y86C (p.Tyr86Cys) variant details
- p.Tyr86Cys
- rs372641442
- ClinGen CA8710241
- ClinVar RCV002756493
- ESP rs372641442
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.60
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)