P6Q (p.Pro6Gln) variant of HCN4 (Q9Y3Q4)
P6Q (p.Pro6Gln) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- rs772656493
- ClinGen CA393099266
- ClinVar RCV002017778
- ClinVar RCV002407294
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.43
- MetaLR 0.83
- MetaSVM 0.84
- CADD 23.50
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)