Y39C (p.Tyr39Cys) variant of SMARCE1 (Q969G3)
Y39C (p.Tyr39Cys) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial meningioma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- rs2508613520
- ClinGen CA399369731
- ClinVar RCV003323198
- ClinVar RCV003525389
- Uncertain significance
- not provided; Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.25
- CADD 28.30
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Familial meningioma; Hereditary cancer-predisposin)
- 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 -0.232
- 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)