P6R (p.Pro6Arg) variant of HCN4 (Q9Y3Q4)
P6R (p.Pro6Arg) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 8; Cardiovascular phenotype. 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.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs772656493
- ClinGen CA393099265
- ClinVar RCV001054800
- ClinVar RCV002409455
- Uncertain significance
- not provided; Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.39
- MetaLR 0.80
- MetaSVM 0.84
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)