E3V (p.Glu3Val) variant of MUSK (O15146)
E3V (p.Glu3Val) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD 9-110668912-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- MetaLR 0.20
- MetaSVM -0.68
- CADD 24.60
- PolyPhen-2 0.06
- SIFT 0.09
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available