K46E (p.Lys46Glu) variant of MYO15A (Unconventional myosin-XV)
K46E (p.Lys46Glu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- gnomAD 17-18118936-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.46
- ESM-1b 0.01
- AlphaMissense 0.86
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available