G64D (p.Gly64Asp) variant of HCN4 (Q9Y3Q4)
G64D (p.Gly64Asp) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G64D (p.Gly64Asp) variant details
- p.Gly64Asp
- rs2549080606
- ClinGen CA393098756
- ClinVar RCV003042297
- ClinVar RCV004990977
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.26
- MetaLR 0.77
- MetaSVM 0.17
- CADD 9.04
- PolyPhen-2 0.36
- SIFT 0.23
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)