R40H (p.Arg40His) variant of HCN4 (Q9Y3Q4)
R40H (p.Arg40His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 8; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- rs1400904747
- ClinGen CA393098973
- ClinVar RCV002963166
- ClinVar RCV003274118
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- MetaLR 0.67
- MetaSVM -0.00
- CADD 20.70
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)