T46I (p.Thr46Ile) variant of MUSK (O15146)
T46I (p.Thr46Ile) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T46I (p.Thr46Ile) variant details
- p.Thr46Ile
- TOPMed rs1319209652
- gnomAD rs1319209652
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.80
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available