D491H (p.Asp491His) variant of HCN4 (Q9Y3Q4)
D491H (p.Asp491His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D491H (p.Asp491His) variant details
- p.Asp491His
- rs1060500107
- ClinGen CA393093803
- ClinVar RCV000824582
- TOPMed rs1060500107
- Likely pathogenic
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Brugada syndrome 8)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)