A178T (p.Ala178Thr) variant of SCN5A (Nav1.5)
A178T (p.Ala178Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BRGDA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
A178T (p.Ala178Thr) variant details
- p.Ala178Thr
- NCI-TCGA Cosmic COSV6113
- cosmic curated COSV61134
- Uncertain significance
- in BRGDA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- ESM-1b 0.57
- AlphaMissense 0.81
- EBI: uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available