I7T (p.Ile7Thr) variant of MUSK (O15146)
I7T (p.Ile7Thr) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- rs2075922654
- ClinGen CA374668001
- ClinVar RCV003142630
- TOPMed rs2075922654
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.36
- MetaLR 0.26
- MetaSVM -0.54
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available