T46T (p.Thr46Thr) variant of MUSK (O15146)
T46T (p.Thr46Thr) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T46T (p.Thr46Thr) variant details
- p.Thr46Thr
- rs776479773
- gnomAD 9-110682732-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 9.74
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available