T73A (p.Thr73Ala) variant of MUSK (O15146)
T73A (p.Thr73Ala) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- rs1021042074
- ClinGen CA198337252
- ClinVar RCV003193518
- TOPMed rs1021042074
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.60
- PolyPhen-2 0.41
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)