G85V (p.Gly85Val) variant of HCN4 (Q9Y3Q4)
G85V (p.Gly85Val) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G85V (p.Gly85Val) variant details
- p.Gly85Val
- rs1397898750
- ClinGen CA393098580
- ClinVar RCV001309105
- ClinVar RCV004034191
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.37
- MetaLR 0.60
- MetaSVM -0.45
- CADD 10.50
- PolyPhen-2 0.09
- SIFT 0.36
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.9e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)