A8T (p.Ala8Thr) variant of SMARCE1 (Q969G3)
A8T (p.Ala8Thr) 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 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs2508617552
- ClinGen CA399371001
- ClinVar RCV003527541
- ClinVar RCV004369377
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.33
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.102
- 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)