G46D (p.Gly46Asp) variant of SMARCE1 (Q969G3)
G46D (p.Gly46Asp) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- rs2037209184
- ClinGen CA399369612
- ClinVar RCV001316777
- Ensembl rs2037209184
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.422
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)