E125Q (p.Glu125Gln) variant of SMARCE1 (Q969G3)
E125Q (p.Glu125Gln) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial meningioma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E125Q (p.Glu125Gln) variant details
- p.Glu125Gln
- rs762580699
- ClinGen CA8545252
- ClinVar RCV001041536
- ClinVar RCV005732252
- Uncertain significance
- Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- CADD 24.30
- PolyPhen-2 0.50
- SIFT 0.07
- ClinVar: Uncertain significance (Familial meningioma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)