D1595N (p.Asp1595Asn) variant of SCN5A (Nav1.5)
D1595N (p.Asp1595Asn) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SCN5A-related disorder; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
D1595N (p.Asp1595Asn) variant details
- p.Asp1595Asn
- rs137854607
- ClinGen CA018551
- cosmic curated COSV61138
- ClinVar RCV000009983
- Pathogenic/Likely pathogenic
- SCN5A-related disorder; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (SCN5A-related disorder; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in PFHB1A)
- UniProt: Pathogenic (in PFHB1A)
- Population evidence available
- Structural context available
- Cited in: Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction… (PMID 11804990)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)