K50I (p.Lys50Ile) variant of MYO15A (Unconventional myosin-XV)
K50I (p.Lys50Ile) in MYO15A (Unconventional myosin-XV) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K50I (p.Lys50Ile) variant details
- p.Lys50Ile
- rs776139570
- gnomAD 17-18118948-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 24.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available