N88S (p.Asn88Ser) variant of SMARCE1 (Q969G3)
N88S (p.Asn88Ser) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N88S (p.Asn88Ser) variant details
- p.Asn88Ser
- rs1163711259
- ClinGen CA399367492
- ClinVar RCV003526516
- TOPMed rs1163711259
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.90
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)