L83P (p.Leu83Pro) variant of SCN4A (Nav1.4)
L83P (p.Leu83Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L83P (p.Leu83Pro) variant details
- p.Leu83Pro
- rs147352060
- ClinGen CA8710242
- ClinVar RCV000546670
- ClinVar RCV001696969
- Benign/Likely benign
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.77
- CADD 23.80
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Benign/Likely benign (not provided; Hyperkalemic periodic paralysis)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.19)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)