E852Q (p.Glu852Gln) variant of SMARCA2 (P51531)
E852Q (p.Glu852Gln) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SMARCA2-related BAFopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
E852Q (p.Glu852Gln) variant details
- p.Glu852Gln
- rs281875199
- ClinGen CA372784851
- ClinVar RCV001533101
- Ensembl rs281875199
- Pathogenic
- SMARCA2-related BAFopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 0.59
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (SMARCA2-related BAFopathy)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Structural context available