D152N (p.Asp152Asn) variant of SCN5A (Nav1.5)
D152N (p.Asp152Asn) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D152N (p.Asp152Asn) variant details
- p.Asp152Asn
- rs778337208
- ClinGen CA063420
- cosmic curated COSV61117
- ClinVar RCV001842104
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.83
- MetaSVM 0.60
- CADD 23.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available