A2V (p.Ala2Val) variant of SCN4A (Nav1.4)
A2V (p.Ala2Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs573062322
- ClinGen CA8710310
- ClinVar RCV002589791
- ClinVar RCV002589792
- Uncertain significance
- Inborn genetic diseases; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.47
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)