H118P (p.His118Pro) variant of SCN5A (Q14524)
H118P (p.His118Pro) in SCN5A (Q14524) 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 0.79 / 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 0.788
- AlphaMissense 0.83
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.40
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available