E110D (p.Glu110Asp) variant of SMARCE1 (Q969G3)
E110D (p.Glu110Asp) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E110D (p.Glu110Asp) variant details
- p.Glu110Asp
- rs372964610
- ClinGen CA8545270
- ClinVar RCV001368064
- ESP rs372964610
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.37
- MetaLR 0.83
- MetaSVM 0.57
- PolyPhen-2 0.03
- SIFT 0.46
- EVE 0.41
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)