S32G (p.Ser32Gly) variant of SMARCE1 (Q969G3)
S32G (p.Ser32Gly) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- rs1162139233
- ClinGen CA399369858
- ClinVar RCV000802647
- gnomAD rs1162139233
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.26
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.93
- CADD 22.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.659
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)