E45* (p.Glu45Ter) variant of MYO7A (Unconventional myosin-VIIa)
E45* (p.Glu45Ter) 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.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- rs368877140
- ClinGen CA6197057
- ClinVar RCV000597639
- ESP rs368877140
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.87
- CADD 56.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available