E7Q (p.Glu7Gln) variant of MYO15A (Unconventional myosin-XV)
E7Q (p.Glu7Gln) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- gnomAD 17-18118819-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 21.90
- PolyPhen-2 0.13
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available