I5F (p.Ile5Phe) variant of SCN10A (Q9Y5Y9)
I5F (p.Ile5Phe) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I5F (p.Ile5Phe) variant details
- p.Ile5Phe
- rs1156489183
- ClinGen CA352163554
- cosmic curated COSV10536
- ClinVar RCV000803673
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.27
- MetaLR 0.49
- MetaSVM -0.41
- CADD 2.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)