T73N (p.Thr73Asn) variant of MUSK (O15146)
T73N (p.Thr73Asn) in MUSK (O15146) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T73N (p.Thr73Asn) variant details
- p.Thr73Asn
- ExAC rs750101214
- gnomAD rs750101214
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.18
- AlphaMissense 0.56
- MetaLR 0.20
- MetaSVM -0.84
- CADD 23.30
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available