E110K (p.Glu110Lys) variant of SMARCE1 (Q969G3)
E110K (p.Glu110Lys) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E110K (p.Glu110Lys) variant details
- p.Glu110Lys
- rs2143997316
- ClinGen CA399367137
- ClinVar RCV002039813
- Ensembl rs2143997316
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.67
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 1.01
- CADD 25.20
- PolyPhen-2 0.50
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)