I141V (p.Ile141Val) variant of SCN5A (Nav1.5)
I141V (p.Ile141Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
I141V (p.Ile141Val) variant details
- p.Ile141Val
- rs794728845
- ClinGen CA352154763
- ClinVar RCV003555049
- Pathogenic/Likely pathogenic
- SCN5A-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.80
- ClinVar: Pathogenic/Likely pathogenic (SCN5A-related disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available