E154D (p.Glu154Asp) variant of SMARCE1 (Q969G3)
E154D (p.Glu154Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E154D (p.Glu154Asp) variant details
- p.Glu154Asp
- rs2143996251
- ClinGen CA399366470
- ClinVar RCV001892836
- Ensembl rs2143996251
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.68
- SIFT 0.12
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)