E42E (p.Glu42Glu) variant of MYO7A (Unconventional myosin-VIIa)
E42E (p.Glu42Glu) in MYO7A (Unconventional myosin-VIIa) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E42E (p.Glu42Glu) variant details
- p.Glu42Glu
- rs782039375
- gnomAD 11-77142816-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available