G101S (p.Gly101Ser) variant of SMARCE1 (Q969G3)
G101S (p.Gly101Ser) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G101S (p.Gly101Ser) variant details
- p.Gly101Ser
- rs2143997384
- ClinGen CA399367291
- ClinVar RCV003025897
- Likely pathogenic
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Familial meningioma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)