H118P (p.His118Pro) variant of SCN5A (Nav1.5)
H118P (p.His118Pro) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
H118P (p.His118Pro) variant details
- p.His118Pro
- rs2125931643
- ClinGen CA352156956
- ClinVar RCV003592380
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.92
- MetaSVM 1.04
- CADD 24.40
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available