T14I (p.Thr14Ile) variant of MUSK (O15146)
T14I (p.Thr14Ile) 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.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- gnomAD 9-110668945-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.53
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available