T12P (p.Thr12Pro) variant of SMARCE1 (Q969G3)
T12P (p.Thr12Pro) 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 0.30 / 1. The record also includes experimental measurements, published literature, and structural context.
T12P (p.Thr12Pro) variant details
- p.Thr12Pro
- rs2037247946
- ClinGen CA399370956
- ClinVar RCV001195852
- ClinVar RCV004033457
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.16
- EVE 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.473
- 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)