Y28H (p.Tyr28His) variant of SMARCE1 (Q969G3)
Y28H (p.Tyr28His) 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 0.37 / 1. The record also includes experimental measurements, published literature, and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- rs2144009228
- ClinGen CA399369915
- ClinVar RCV001965415
- ClinVar RCV002425298
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.98
- MetaLR 0.22
- MetaSVM -0.83
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.35
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.149
- 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)