P55P (p.Pro55Pro) variant of MUSK (O15146)
P55P (p.Pro55Pro) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P55P (p.Pro55Pro) variant details
- p.Pro55Pro
- rs766600402
- gnomAD 9-110682759-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available