G91S (p.Gly91Ser) variant of HCN4 (Q9Y3Q4)
G91S (p.Gly91Ser) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G91S (p.Gly91Ser) variant details
- p.Gly91Ser
- rs746252218
- ClinGen CA7649491
- ClinVar RCV003615487
- ClinVar RCV004634350
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.52
- MetaLR 0.97
- MetaSVM 1.07
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00022)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)