Ensembl gene ID
ENSG00000064787
Ensembl transcript ID
ENST00000395961 (canonical)
GeneCards
BCAS1
OMIM
602968
SFARI Gene
BCAS1

Gene Constraint

CategoryExp. SNVsObs. SNVsConstraint metrics
Synonymous130.3126Z = 0.3
o/e = 0.97 (0.84 - 1.12)
01
Missense324.3337Z = -0.25
o/e = 1.04 (0.95 - 1.14)
01
LoF25.414pLI = 0
o/e = 0.55 (0.36 - 0.86)
01
Include:
ClinVar pathogenic and likely pathogenic variants (0)
10
SFARI Variants (700)

† denotes a consequence that is for a non-canonical transcript

Cohort Key:  SPARK  SPARK      SSC  SSC