G36E (p.Gly36Glu) variant of HCN4 (Q9Y3Q4)
G36E (p.Gly36Glu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G36E (p.Gly36Glu) variant details
- p.Gly36Glu
- rs143090627
- ClinGen CA180109
- ClinVar RCV000153356
- ClinVar RCV000619819
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.32
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.18)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)