R375C (p.Arg375Cys) variant of HCN4 (Q9Y3Q4)
R375C (p.Arg375Cys) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Brugada syndrome 8; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R375C (p.Arg375Cys) variant details
- p.Arg375Cys
- rs755356387
- ClinGen CA7649363
- NCI-TCGA Cosmic COSV5608
- ClinVar RCV000693215
- Pathogenic
- Brugada syndrome 8; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Brugada syndrome 8; not provided; Cardiovascular phenotype)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)