N29S (p.Asn29Ser) variant of SMARCE1 (Q969G3)
N29S (p.Asn29Ser) 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 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- rs760888905
- ClinGen CA8545325
- ClinVar RCV001298741
- ClinVar RCV004671320
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.12
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -1.08
- 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)