K27E (p.Lys27Glu) variant of MYO15A (Unconventional myosin-XV)
K27E (p.Lys27Glu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- TOPMed rs2045835495
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.43
- ESM-1b 0.11
- AlphaMissense 0.92
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available