p.Ala11 Lys13del variant of MYO15A (Unconventional myosin-XV)
p.Ala11 Lys13del in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala11 Lys13del variant details
- rs1567617546
- gnomAD 17-18118824-GAAGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 19.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available