S172Y (p.Ser172Tyr) variant of SCN5A (Nav1.5)

Name: SCN5A S172Y (p.Ser172Tyr) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-31
License: https://catvariant.com/terms-of-use

S172Y (p.Ser172Tyr) 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 0.93 / 1. The record also includes structural context.

S172Y (p.Ser172Tyr) variant details

p.Ser172Tyr
NCI-TCGA Cosmic COSV1003
cosmic curated COSV10034
NCI-TCGA Cosmic COSV6111
Variant assessed as somatic; moderate impact.
Missense
Variant Prioritization Score for Impact Estimate 0.927
ESM-1b 1.00
AlphaMissense 0.84
UniProt: Variant assessed as somatic; moderate impact.
Structural context available