E8R (p.Glu8Arg) variant of MYO15A (Unconventional myosin-XV)
E8R (p.Glu8Arg) in MYO15A (Unconventional myosin-XV) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E8R (p.Glu8Arg) variant details
- p.Glu8Arg
- rs771345811
- gnomAD 17-18118820-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 20.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available