G36V (p.Gly36Val) variant of HCN4 (Q9Y3Q4)
G36V (p.Gly36Val) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- rs143090627
- ClinGen CA393099008
- ClinVar RCV003506434
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.23
- MetaLR 0.73
- MetaSVM 0.15
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)