N48D (p.Asn48Asp) variant of SMARCE1 (Q969G3)
N48D (p.Asn48Asp) 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. The record also includes experimental measurements, published literature, and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- rs2508613475
- ClinGen CA399369589
- ClinVar RCV003382142
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (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 -0.248
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)