T62N (p.Thr62Asn) variant of MUSK (O15146)
T62N (p.Thr62Asn) in MUSK (O15146) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T62N (p.Thr62Asn) variant details
- p.Thr62Asn
- rs751680282
- ExAC rs751680282
- TOPMed rs751680282
- gnomAD rs751680282
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.31
- MetaLR 0.24
- MetaSVM -0.67
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available