D81E (p.Asp81Glu) variant of SCN10A (Q9Y5Y9)
D81E (p.Asp81Glu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- rs1060501717
- ClinGen CA16611303
- ClinVar RCV000475022
- ClinVar RCV000786209
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.48
- MetaLR 0.92
- MetaSVM 0.80
- CADD 13.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)