R99K (p.Arg99Lys) variant of SCN10A (Q9Y5Y9)
R99K (p.Arg99Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
R99K (p.Arg99Lys) variant details
- p.Arg99Lys
- cosmic curated COSV10659
- Ensembl rs2064290705
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.23
- MetaLR 0.55
- MetaSVM -0.39
- CADD 17.20
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (Brugada syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available