A414G (p.Ala414Gly) variant of HCN4 (Q9Y3Q4)
A414G (p.Ala414Gly) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sick sinus syndrome 2, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
A414G (p.Ala414Gly) variant details
- p.Ala414Gly
- rs1057519276
- ClinGen CA16043944
- ClinVar RCV000415571
- Ensembl rs1057519276
- Pathogenic
- Sick sinus syndrome 2, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.49
- ClinVar: Pathogenic (Sick sinus syndrome 2, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. (PMID 25145517)