H41Q (p.His41Gln) variant of SCN10A (Q9Y5Y9)
H41Q (p.His41Gln) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H41Q (p.His41Gln) variant details
- p.His41Gln
- rs747084510
- ClinGen CA72963559
- ClinVar RCV002382668
- ClinVar RCV006469778
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.25
- MetaLR 0.66
- MetaSVM -0.18
- CADD 0.39
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)