D83E (p.Asp83Glu) variant of HCN1 (O60741)
D83E (p.Asp83Glu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HCN1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D83E (p.Asp83Glu) variant details
- p.Asp83Glu
- TOPMed rs1739999039
- Uncertain significance
- HCN1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.38
- CADD 13.90
- PolyPhen-2 0.12
- SIFT 0.40
- ClinVar: Uncertain significance (HCN1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available