I66F (p.Ile66Phe) variant of MUSK (O15146)
I66F (p.Ile66Phe) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I66F (p.Ile66Phe) variant details
- p.Ile66Phe
- gnomAD 9-110682790-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.17
- MetaLR 0.17
- MetaSVM -0.90
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available