I59F (p.Ile59Phe) variant of SMARCE1 (Q969G3)
I59F (p.Ile59Phe) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I59F (p.Ile59Phe) variant details
- p.Ile59Phe
- rs2143999589
- ClinGen CA399367957
- ClinVar RCV001991161
- ClinVar RCV002398045
- Uncertain significance
- Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.34
- CADD 26.90
- PolyPhen-2 0.52
- SIFT 0.00
- 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 9e-07)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.222
- 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)