R50Q (p.Arg50Gln) variant of SMARCE1 (Q969G3)
R50Q (p.Arg50Gln) 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 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs1060501394
- ClinGen CA16615629
- cosmic curated COSV62176
- ClinVar RCV000466477
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.34
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score 0.176
- 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)