G68D (p.Gly68Asp) variant of HCN1 (O60741)
G68D (p.Gly68Asp) 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 0.31 / 1. The record also includes population frequency data and structural context.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- rs2478644362
- ClinGen CA359706530
- ClinVar RCV006559624
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.42
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available