A123E (p.Ala123Glu) variant of SCN5A (Nav1.5)
A123E (p.Ala123Glu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, 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 population frequency data and structural context.
A123E (p.Ala123Glu) variant details
- p.Ala123Glu
- rs765699394
- ClinGen CA352156927
- cosmic curated COSV10736
- ClinVar RCV003770621
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.68
- MetaSVM 0.10
- CADD 21.70
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available