Y75Y (p.Tyr75Tyr) variant of MUSK (O15146)
Y75Y (p.Tyr75Tyr) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y75Y (p.Tyr75Tyr) variant details
- p.Tyr75Tyr
- rs56130155
- gnomAD 9-110687135-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 9.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)