S53F (p.Ser53Phe) variant of MUSK (O15146)
S53F (p.Ser53Phe) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S53F (p.Ser53Phe) variant details
- p.Ser53Phe
- gnomAD 9-110682752-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.43
- MetaLR 0.42
- MetaSVM -0.13
- CADD 26.60
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available