S48del (p.Ser48del) variant of MYO15A (Unconventional myosin-XV)
S48del (p.Ser48del) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S48del (p.Ser48del) variant details
- gnomAD 17-18118940-TCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available