L93F (p.Leu93Phe) variant of SMARCE1 (Q969G3)
L93F (p.Leu93Phe) 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 0.80 / 1. The record also includes published literature and structural context.
L93F (p.Leu93Phe) variant details
- p.Leu93Phe
- rs2037147129
- ClinGen CA399367422
- ClinVar RCV001246188
- Ensembl rs2037147129
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.62
- PolyPhen-2 0.95
- SIFT 0.10
- EVE 0.77
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)