D27H (p.Asp27His) variant of HCN4 (Q9Y3Q4)
D27H (p.Asp27His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D27H (p.Asp27His) variant details
- p.Asp27His
- rs2549080722
- ClinGen CA393099102
- ClinVar RCV002419153
- ClinVar RCV003614134
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.43
- MetaLR 0.87
- MetaSVM 0.98
- CADD 24.60
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)