P25L (p.Pro25Leu) variant of MUSK (O15146)
P25L (p.Pro25Leu) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- TOPMed rs1332419631
- gnomAD rs1332419631
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.20
- MetaLR 0.23
- MetaSVM -0.72
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available