E161* (p.Glu161Ter) variant of SCN5A (Q14524)
E161* (p.Glu161Ter) in SCN5A (Q14524) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BRGDA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
E161* (p.Glu161Ter) variant details
- p.Glu161Ter
- cosmic curated COSV10885
- 1000Genomes rs199473062
- ESP rs199473062
- ExAC rs199473062
- Pathogenic
- in BRGDA1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 45.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Population evidence available
- Structural context available