E35Q (p.Glu35Gln) variant of MUSK (O15146)
E35Q (p.Glu35Gln) in MUSK (O15146) 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.
E35Q (p.Glu35Gln) variant details
- p.Glu35Gln
- gnomAD 9-110682697-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.33
- MetaLR 0.32
- MetaSVM -0.34
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available