S87C (p.Ser87Cys) variant of HCN4 (Q9Y3Q4)
S87C (p.Ser87Cys) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
S87C (p.Ser87Cys) variant details
- p.Ser87Cys
- rs866449137
- ClinGen CA393098564
- ClinVar RCV001322716
- ClinVar RCV005911044
- Uncertain significance
- not specified; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.29
- MetaLR 0.76
- MetaSVM 0.82
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.16
- ClinVar: Uncertain significance (not specified; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)