I59T (p.Ile59Thr) variant of MUSK (O15146)
I59T (p.Ile59Thr) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I59T (p.Ile59Thr) variant details
- p.Ile59Thr
- gnomAD 9-110682770-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.60
- MetaLR 0.44
- MetaSVM -0.17
- CADD 27.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available