A149V (p.Ala149Val) variant of SMARCE1 (Q969G3)
A149V (p.Ala149Val) 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 0.37 / 1. The record also includes published literature and structural context.
A149V (p.Ala149Val) variant details
- p.Ala149Val
- rs2037142942
- ClinGen CA399366524
- ClinVar RCV001219270
- Ensembl rs2037142942
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.98
- MetaLR 0.23
- MetaSVM -0.89
- PolyPhen-2 0.02
- SIFT 0.16
- EVE 0.49
- 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)