L21V (p.Leu21Val) variant of SCN10A (Q9Y5Y9)
L21V (p.Leu21Val) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs1553626259
- ClinGen CA352163345
- ClinVar RCV000638650
- Ensembl rs1553626259
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.54
- MetaLR 0.96
- MetaSVM 1.15
- CADD 24.40
- 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)