T73T (p.Thr73Thr) variant of MUSK (O15146)
T73T (p.Thr73Thr) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T73T (p.Thr73Thr) variant details
- p.Thr73Thr
- rs2076206983
- gnomAD 9-110687129-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.15
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available