S76I (p.Ser76Ile) variant of MUSK (O15146)
S76I (p.Ser76Ile) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S76I (p.Ser76Ile) variant details
- p.Ser76Ile
- gnomAD rs1352178393
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.15
- MetaLR 0.21
- MetaSVM -0.69
- CADD 22.70
- SIFT 0.73
- Population evidence available
- Structural context available