P58S (p.Pro58Ser) variant of HCN4 (Q9Y3Q4)
P58S (p.Pro58Ser) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- rs1029043200
- ClinGen CA272700504
- ClinVar RCV001248102
- ClinVar RCV002411912
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.26
- MetaLR 0.71
- MetaSVM 0.14
- CADD 15.20
- PolyPhen-2 0.18
- SIFT 0.69
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)