A37D (p.Ala37Asp) variant of HCN4 (Q9Y3Q4)
A37D (p.Ala37Asp) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 8. 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.
A37D (p.Ala37Asp) variant details
- p.Ala37Asp
- rs2043138879
- ClinGen CA393099000
- ClinVar RCV003135536
- ClinVar RCV003505297
- Uncertain significance
- not provided; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.18
- MetaLR 0.72
- MetaSVM -0.04
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)