S60S (p.Ser60Ser) variant of MUSK (O15146)
S60S (p.Ser60Ser) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S60S (p.Ser60Ser) variant details
- p.Ser60Ser
- gnomAD 9-110682774-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 8.97
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available