N44K (p.Asn44Lys) variant of SMARCE1 (Q969G3)
N44K (p.Asn44Lys) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N44K (p.Asn44Lys) variant details
- p.Asn44Lys
- rs570462841
- ClinGen CA399369644
- ClinVar RCV001325872
- ClinVar RCV004951550
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Likely benign
- UniProt: Likely benign
- 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 -0.112
- 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)