I94M (p.Ile94Met) variant of SCN5A (Nav1.5)
I94M (p.Ile94Met) 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 0.60 / 1. The record also includes structural context.
I94M (p.Ile94Met) variant details
- p.Ile94Met
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- NCI-TCGA Cosmic COSV6006
- Uncertain significance
- in BRGDA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- ESM-1b 1.00
- AlphaMissense 0.12
- EBI: uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available