T73S (p.Thr73Ser) variant of MUSK (O15146)
T73S (p.Thr73Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
T73S (p.Thr73Ser) variant details
- p.Thr73Ser
- TOPMed rs1021042074
- gnomAD rs1021042074
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.04
- CADD 21.20
- PolyPhen-2 0.14
- SIFT 0.66
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available