E171G (p.Glu171Gly) variant of SCN5A (Nav1.5)
E171G (p.Glu171Gly) 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 0.88 / 1. The record also includes structural context.
E171G (p.Glu171Gly) variant details
- p.Glu171Gly
- rs2062305727
- ClinGen CA352153917
- cosmic curated COSV61128
- ClinVar RCV003656470
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.01
- CADD 28.40
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available