S76S (p.Ser76Ser) variant of MUSK (O15146)
S76S (p.Ser76Ser) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S76S (p.Ser76Ser) variant details
- p.Ser76Ser
- rs768514590
- gnomAD 9-110687138-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 12.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available