E75D (p.Glu75Asp) variant of HCN1 (O60741)
E75D (p.Glu75Asp) 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 0.34 / 1. The record also includes population frequency data and structural context.
E75D (p.Glu75Asp) variant details
- p.Glu75Asp
- rs2112109170
- ClinGen CA359706488
- ClinVar RCV006558090
- Ensembl rs2112109170
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.21
- CADD 6.35
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available