M148I (p.Met148Ile) variant of SCN5A (Nav1.5)
M148I (p.Met148Ile) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
M148I (p.Met148Ile) variant details
- p.Met148Ile
- cosmic curated COSV10035
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- ESM-1b 0.89
- AlphaMissense 1.00
- Structural context available