S44N (p.Ser44Asn) variant of HCN4 (Q9Y3Q4)
S44N (p.Ser44Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S44N (p.Ser44Asn) variant details
- p.Ser44Asn
- rs2151228715
- ClinGen CA393098930
- ClinVar RCV001865135
- Ensembl rs2151228715
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.30
- MetaLR 0.74
- MetaSVM 0.04
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)