I66T (p.Ile66Thr) variant of MUSK (O15146)
I66T (p.Ile66Thr) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I66T (p.Ile66Thr) variant details
- p.Ile66Thr
- gnomAD 9-110682791-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -0.93
- CADD 22.80
- PolyPhen-2 0.38
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available