G79R (p.Gly79Arg) variant of HCN1 (O60741)
G79R (p.Gly79Arg) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- rs2478644134
- ClinGen CA359706467
- ClinVar RCV006471521
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.20
- CADD 13.30
- PolyPhen-2 0.04
- SIFT 0.54
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available