T46S (p.Thr46Ser) variant of MUSK (O15146)
T46S (p.Thr46Ser) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T46S (p.Thr46Ser) variant details
- p.Thr46Ser
- TOPMed rs1319209652
- gnomAD rs1319209652
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -0.93
- CADD 22.50
- PolyPhen-2 0.38
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available