F47L (p.Phe47Leu) variant of MUSK (O15146)
F47L (p.Phe47Leu) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- gnomAD 9-110682735-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available