E85* (p.Glu85Ter) variant of HCN1 (O60741)
E85* (p.Glu85Ter) in HCN1 (O60741) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in GEFSP10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E85* (p.Glu85Ter) variant details
- p.Glu85Ter
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57525
- Uncertain significance
- in GEFSP10
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.85
- MetaLR 0.71
- MetaSVM 0.60
- CADD 35.00
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: uncertain significance (in GEFSP10)
- UniProt: Uncertain significance (in GEFSP10)
- Population evidence available
- Structural context available