E19* (p.Glu19Ter) variant of MYO7A (Unconventional myosin-VIIa)
E19* (p.Glu19Ter) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- rs781869170
- ClinGen CA381947615
- ClinVar RCV001386770
- ExAC rs781869170
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available