E96* (p.Glu96Ter) variant of USH1C (Harmonin)
E96* (p.Glu96Ter) in USH1C (Harmonin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- rs769420899
- NCI-TCGA Cosmic COSV5001
- NCI-TCGA Cosmic COSV9914
- cosmic curated COSV99140
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.31
- MetaLR 0.09
- MetaSVM -1.08
- PolyPhen-2 0.96
- SIFT 0.02
- MutPred 0.51
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)