R74G (p.Arg74Gly) variant of MUSK (O15146)
R74G (p.Arg74Gly) 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 0.42 / 1. The record also includes population frequency data and structural context.
R74G (p.Arg74Gly) variant details
- p.Arg74Gly
- TOPMed rs1370203787
- gnomAD rs1370203787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.39
- MetaLR 0.29
- MetaSVM -0.46
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available