E36* (p.Glu36Ter) variant of HCN1 (O60741)
E36* (p.Glu36Ter) in HCN1 (O60741) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E36* (p.Glu36Ter) variant details
- p.Glu36Ter
- NCI-TCGA Cosmic COSV1003
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.15
- MetaLR 0.83
- MetaSVM 0.24
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available