F71F (p.Phe71Phe) variant of MUSK (O15146)
F71F (p.Phe71Phe) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F71F (p.Phe71Phe) variant details
- p.Phe71Phe
- gnomAD 9-110687123-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 11.90
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available