S19S (p.Ser19Ser) variant of MUSK (O15146)
S19S (p.Ser19Ser) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S19S (p.Ser19Ser) variant details
- p.Ser19Ser
- rs750615817
- gnomAD 9-110668961-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 11.10
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available