P5S (p.Pro5Ser) variant of HCN4 (Q9Y3Q4)
P5S (p.Pro5Ser) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs1204027135
- ClinGen CA393099272
- ClinVar RCV002633482
- TOPMed rs1204027135
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.41
- MetaLR 0.77
- MetaSVM 0.68
- CADD 19.90
- PolyPhen-2 0.17
- SIFT 0.12
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)