A485V (p.Ala485Val) variant of HCN4 (Q9Y3Q4)
A485V (p.Ala485Val) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Left ventricular noncompaction cardiomyopathy; not provided; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A485V (p.Ala485Val) variant details
- p.Ala485Val
- rs1454748709
- ClinGen CA393093865
- NCI-TCGA Cosmic COSV5608
- ClinVar RCV002204524
- Pathogenic/Likely pathogenic
- Left ventricular noncompaction cardiomyopathy; not provided; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.81
- MetaLR 0.94
- MetaSVM 1.06
- CADD 25.60
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Left ventricular noncompaction cardiomyopathy; not provided; Bru)
- EBI: Pathogenic (in SSS2)
- UniProt: Pathogenic (in SSS2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews. (PMID 20662977)
- Cited in: Brugada Syndrome. (PMID 20301690)