E48D (p.Glu48Asp) variant of SCN10A (Q9Y5Y9)
E48D (p.Glu48Asp) 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 0.15 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- Ensembl rs368338265
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.11
- MetaLR 0.62
- MetaSVM -0.16
- CADD 0.40
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (Brugada syndrome)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available