V94G (p.Val94Gly) variant of SCN10A (Q9Y5Y9)
V94G (p.Val94Gly) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Brugada syndrome; Brugada syndrome 1; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
V94G (p.Val94Gly) variant details
- p.Val94Gly
- rs202143516
- ClinGen CA2321257
- ClinVar RCV000987255
- ClinVar RCV001491365
- Conflicting interpretations
- Brugada syndrome; Brugada syndrome 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.99
- MetaLR 0.95
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Brugada syndrome; Brugada syndrome 1; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.01)
- 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)