S88N (p.Ser88Asn) variant of HCN4 (Q9Y3Q4)
S88N (p.Ser88Asn) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S88N (p.Ser88Asn) variant details
- p.Ser88Asn
- rs1060500108
- ClinGen CA16614926
- ClinVar RCV000471352
- gnomAD rs1060500108
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.23
- MetaLR 0.79
- MetaSVM 0.31
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)