N38Y (p.Asn38Tyr) variant of SMARCE1 (Q969G3)
N38Y (p.Asn38Tyr) 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; Hereditary cancer-predisposing syndrome. The record also includes experimental measurements, published literature, and structural context.
N38Y (p.Asn38Tyr) variant details
- p.Asn38Tyr
- rs2508613527
- ClinGen CA399369753
- ClinVar RCV003171196
- ClinVar RCV004593225
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.578
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)