P25R (p.Pro25Arg) variant of MUSK (O15146)
P25R (p.Pro25Arg) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- TOPMed rs1332419631
- gnomAD rs1332419631
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.34
- MetaLR 0.22
- MetaSVM -0.59
- CADD 22.30
- PolyPhen-2 0.22
- SIFT 0.17
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available