S88I (p.Ser88Ile) variant of SCN5A (Nav1.5)

Name: SCN5A S88I (p.Ser88Ile) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-31
License: https://catvariant.com/terms-of-use

S88I (p.Ser88Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.

S88I (p.Ser88Ile) variant details

p.Ser88Ile
NCI-TCGA Cosmic COSV1000
cosmic curated COSV10002
Variant assessed as somatic; moderate impact.
Missense
Variant Prioritization Score for Impact Estimate 0.637
REVEL 0.65
ESM-1b 1.00
AlphaMissense 0.14
MetaLR 0.81
MetaSVM 0.47
CADD 21.00
UniProt: Variant assessed as somatic; moderate impact.
Population evidence available
Structural context available