Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 130.3 | 126 | Z = 0.3 o/e = 0.97 (0.84 - 1.12) | |
Missense | 324.3 | 337 | Z = -0.25 o/e = 1.04 (0.95 - 1.14) | |
LoF | 25.4 | 14 | pLI = 0 o/e = 0.55 (0.36 - 0.86) |
† denotes a consequence that is for a non-canonical transcript
Cohort Key: SPARK SSC