T14T (p.Thr14Thr) variant of MUSK (O15146)
T14T (p.Thr14Thr) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T14T (p.Thr14Thr) variant details
- p.Thr14Thr
- gnomAD 9-110668946-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 11.10
- Population evidence available
- Structural context available
- Literature evidence available