R50G (p.Arg50Gly) variant of SMARCE1 (Q969G3)
R50G (p.Arg50Gly) 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 0.35 / 1. The record also includes experimental measurements, published literature, and structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- rs2037209097
- ClinGen CA399369551
- ClinVar RCV002026442
- TOPMed rs2037209097
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.77
- MetaLR 0.15
- MetaSVM -0.87
- PolyPhen-2 0.96
- SIFT 0.01
- MutPred 0.34
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score 0.176
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)