Q113K (p.Gln113Lys) variant of SMARCE1 (Q969G3)
Q113K (p.Gln113Lys) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
Q113K (p.Gln113Lys) variant details
- p.Gln113Lys
- rs2143997301
- ClinGen CA399367077
- ClinVar RCV001361207
- ClinVar RCV004951607
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.97
- MetaLR 0.83
- MetaSVM 0.51
- PolyPhen-2 0.01
- SIFT 0.06
- EVE 0.91
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)