N127S (p.Asn127Ser) variant of SMARCE1 (Q969G3)
N127S (p.Asn127Ser) 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 0.69 / 1. The record also includes published literature and structural context.
N127S (p.Asn127Ser) variant details
- p.Asn127Ser
- rs2143996566
- ClinGen CA399366769
- NCI-TCGA Cosmic COSV5286
- cosmic curated COSV52861
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.20
- MetaLR 0.94
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.03
- EVE 0.31
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)