T62I (p.Thr62Ile) variant of MUSK (O15146)
T62I (p.Thr62Ile) 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.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- ExAC rs751680282
- TOPMed rs751680282
- gnomAD rs751680282
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.19
- AlphaMissense 0.31
- MetaLR 0.24
- MetaSVM -0.67
- CADD 24.00
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available