E45E (p.Glu45Glu) variant of MYO7A (Unconventional myosin-VIIa)
E45E (p.Glu45Glu) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E45E (p.Glu45Glu) variant details
- p.Glu45Glu
- gnomAD 11-77147800-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.93
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available