Q44K (p.Gln44Lys) variant of SCN10A (Nav1.8)
Q44K (p.Gln44Lys) in SCN10A (Nav1.8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- rs2470901401
- ClinGen CA352163047
- ClinVar RCV002385395
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.25
- MetaLR 0.74
- MetaSVM -0.01
- CADD 0.61
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available