E7K (p.Glu7Lys) variant of MYO15A (Unconventional myosin-XV)
E7K (p.Glu7Lys) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- TOPMed rs2045833497
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available