S47N (p.Ser47Asn) variant of HCN4 (Q9Y3Q4)
S47N (p.Ser47Asn) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- rs1426506590
- ClinGen CA393098897
- ClinVar RCV003505054
- ClinVar RCV005575192
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.53
- MetaLR 0.94
- MetaSVM 1.09
- CADD 23.60
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)