S55I (p.Ser55Ile) variant of MYO15A (Unconventional myosin-XV)
S55I (p.Ser55Ile) 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.
S55I (p.Ser55Ile) variant details
- p.Ser55Ile
- gnomAD 17-18118964-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available