E8del (p.Glu8del) variant of MYO15A (Unconventional myosin-XV)
E8del (p.Glu8del) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E8del (p.Glu8del) variant details
- rs894539321
- gnomAD 17-18118818-TGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 19.30
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available