E19C (p.Glu19Cys) variant of MYO7A (Unconventional myosin-VIIa)
E19C (p.Glu19Cys) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E19C (p.Glu19Cys) variant details
- p.Glu19Cys
- gnomAD 11-77138312-G-GTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available