G86E (p.Gly86Glu) variant of HCN1 (O60741)
G86E (p.Gly86Glu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G86E (p.Gly86Glu) variant details
- p.Gly86Glu
- TOPMed rs1230569941
- gnomAD rs1230569941
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.30
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Uncertain significance (Early-infantile DEE)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available