E24A (p.Glu24Ala) variant of SMARCB1 (Q12824)
E24A (p.Glu24Ala) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes experimental measurements, published literature, and structural context.
E24A (p.Glu24Ala) variant details
- p.Glu24Ala
- rs2145952118
- ClinGen CA410930865
- ClinVar RCV001368317
- ClinVar RCV002377544
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.53
- MetaLR 0.82
- MetaSVM 0.78
- PolyPhen-2 0.50
- SIFT 0.04
- MutPred 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.793
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)