R105Q (p.Arg105Gln) variant of SMARCE1 (Q969G3)
R105Q (p.Arg105Gln) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Coffin-Siris syndrome 5; not provided; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
R105Q (p.Arg105Gln) variant details
- p.Arg105Gln
- rs2037146907
- ClinGen CA399367222
- NCI-TCGA Cosmic COSV9922
- cosmic curated COSV99228
- Pathogenic/Likely pathogenic
- Coffin-Siris syndrome 5; not provided; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.93
- PolyPhen-2 0.28
- SIFT 0.05
- EVE 0.33
- ClinVar: Pathogenic/Likely pathogenic (Coffin-Siris syndrome 5; not provided; Familial meningioma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)