P33L (p.Pro33Leu) variant of MUSK (O15146)
P33L (p.Pro33Leu) 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.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- TOPMed rs1254646159
- gnomAD rs1254646159
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.11
- MetaLR 0.20
- MetaSVM -0.80
- CADD 20.60
- SIFT 0.78
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available