I7L (p.Ile7Leu) variant of MUSK (O15146)
I7L (p.Ile7Leu) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I7L (p.Ile7Leu) variant details
- p.Ile7Leu
- TOPMed rs1203437880
- gnomAD rs1203437880
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.83
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available