E52A (p.Glu52Ala) variant of MUSK (O15146)
E52A (p.Glu52Ala) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
E52A (p.Glu52Ala) variant details
- p.Glu52Ala
- rs1554732832
- ClinGen CA374670074
- ClinVar RCV000518524
- Ensembl rs1554732832
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.36
- MetaLR 0.32
- MetaSVM -0.42
- PolyPhen-2 0.65
- SIFT 0.01
- MutPred 0.44
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available