E52D (p.Glu52Asp) variant of MUSK (O15146)
E52D (p.Glu52Asp) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD 9-110682750-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.09
- MetaLR 0.12
- MetaSVM -1.01
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available