I12T (p.Ile12Thr) variant of MUSK (O15146)
I12T (p.Ile12Thr) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- gnomAD 9-110668939-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.28
- MetaLR 0.22
- MetaSVM -0.71
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available