P79T (p.Pro79Thr) variant of SCN4A (Nav1.4)
P79T (p.Pro79Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P79T (p.Pro79Thr) variant details
- p.Pro79Thr
- rs376505442
- ClinGen CA8710249
- ClinVar RCV000796760
- ClinVar RCV000992890
- Uncertain significance
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.83
- CADD 24.70
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hyperkalemic periodic paralysis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)