Y133C (p.Tyr133Cys) variant of SMARCE1 (Q969G3)
Y133C (p.Tyr133Cys) 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.
Y133C (p.Tyr133Cys) variant details
- p.Tyr133Cys
- rs2143996507
- ClinGen CA399366697
- ClinVar RCV001363509
- Ensembl rs2143996507
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.96
- 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)