G79R (p.Gly79Arg) variant of HCN4 (Q9Y3Q4)
G79R (p.Gly79Arg) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- rs2549080580
- ClinGen CA393098632
- ClinVar RCV003615257
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.19
- MetaLR 0.74
- MetaSVM 0.00
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)