P28P (p.Pro28Pro) variant of MUSK (O15146)
P28P (p.Pro28Pro) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- rs778144783
- gnomAD 9-110682678-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available