D42H (p.Asp42His) variant of HCN4 (Q9Y3Q4)
D42H (p.Asp42His) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- rs752597565
- ClinGen CA7649502
- ClinVar RCV000794785
- ClinVar RCV002397582
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.48
- MetaLR 0.95
- MetaSVM 1.07
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- 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)