R42K (p.Arg42Lys) variant of SCN10A (Q9Y5Y9)
R42K (p.Arg42Lys) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R42K (p.Arg42Lys) variant details
- p.Arg42Lys
- NCI-TCGA TCGA novel
- ExAC rs780164986
- TOPMed rs780164986
- gnomAD rs780164986
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.21
- MetaLR 0.70
- MetaSVM -0.12
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Brugada syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available