D109G (p.Asp109Gly) variant of SMARCE1 (Q969G3)
D109G (p.Asp109Gly) 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 0.91 / 1. The record also includes published literature and structural context.
D109G (p.Asp109Gly) variant details
- p.Asp109Gly
- rs2143997323
- ClinGen CA399367152
- ClinVar RCV002042755
- Ensembl rs2143997323
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.03
- EVE 0.95
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)