A141T (p.Ala141Thr) variant of SMARCE1 (Q969G3)
A141T (p.Ala141Thr) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A141T (p.Ala141Thr) variant details
- p.Ala141Thr
- rs2037143160
- ClinGen CA399366618
- ClinVar RCV001338084
- ClinVar RCV002329304
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.89
- MetaLR 0.41
- MetaSVM -0.25
- PolyPhen-2 0.80
- SIFT 0.06
- EVE 0.77
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)