P80S (p.Pro80Ser) variant of HCN4 (Q9Y3Q4)
P80S (p.Pro80Ser) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P80S (p.Pro80Ser) variant details
- p.Pro80Ser
- rs1595837594
- ClinGen CA393098626
- ClinVar RCV002459556
- ClinVar RCV003101779
- Conflicting interpretations
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.22
- MetaLR 0.66
- MetaSVM -0.19
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)