T21T (p.Thr21Thr) variant of MUSK (O15146)
T21T (p.Thr21Thr) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T21T (p.Thr21Thr) variant details
- p.Thr21Thr
- rs1466148518
- gnomAD 9-110668967-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.98
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available