E36G (p.Glu36Gly) variant of HCN1 (O60741)
E36G (p.Glu36Gly) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
E36G (p.Glu36Gly) variant details
- p.Glu36Gly
- rs2112109568
- ClinGen CA359706731
- ClinVar RCV006468237
- Ensembl rs2112109568
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.18
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available