T58M (p.Thr58Met) variant of SMARCE1 (Q969G3)
T58M (p.Thr58Met) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T58M (p.Thr58Met) variant details
- p.Thr58Met
- rs1353575590
- ClinGen CA399367972
- NCI-TCGA Cosmic COSV6217
- cosmic curated COSV62177
- Uncertain significance
- Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.40
- CADD 26.00
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Uncertain significance (Familial meningioma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.44
- 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)