M19I (p.Met19Ile) variant of SMARCE1 (Q969G3)
M19I (p.Met19Ile) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M19I (p.Met19Ile) variant details
- p.Met19Ile
- rs142279746
- ClinGen CA8545329
- ClinVar RCV000471993
- ClinVar RCV001024549
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.26
- MetaLR 0.11
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.09
- EVE 0.34
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.211
- 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)