P52R (p.Pro52Arg) variant of HCN4 (Q9Y3Q4)
P52R (p.Pro52Arg) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs1297165703
- ClinGen CA393098857
- ClinVar RCV003384153
- ClinVar RCV006472601
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.46
- MetaLR 0.82
- MetaSVM 0.78
- CADD 22.30
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)