A56D (p.Ala56Asp) variant of MYO15A (Unconventional myosin-XV)
A56D (p.Ala56Asp) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A56D (p.Ala56Asp) variant details
- p.Ala56Asp
- gnomAD 17-18118967-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.57
- ESM-1b 0.40
- AlphaMissense 0.99
- CADD 22.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available