I68F (p.Ile68Phe) variant of MUSK (O15146)
I68F (p.Ile68Phe) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I68F (p.Ile68Phe) variant details
- p.Ile68Phe
- gnomAD rs1322165872
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.47
- MetaLR 0.22
- MetaSVM -0.57
- CADD 24.00
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available