R82P (p.Arg82Pro) variant of HCN4 (Q9Y3Q4)
R82P (p.Arg82Pro) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R82P (p.Arg82Pro) variant details
- p.Arg82Pro
- rs1170776732
- ClinGen CA393098607
- ClinVar RCV003613555
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.39
- MetaLR 0.69
- MetaSVM 0.03
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)