I167V (p.Ile167Val) variant of SCN5A (Nav1.5)
I167V (p.Ile167Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
I167V (p.Ile167Val) variant details
- p.Ile167Val
- cosmic curated COSV61131
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- ESM-1b 1.00
- AlphaMissense 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available