Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 39.5 | 39 | Z = 0.06 o/e = 0.99 (0.76 - 1.29) | |
Missense | 92.4 | 15 | Z = 2.86 o/e = 0.16 (0.11 - 0.25) | |
LoF | 9.4 | 1 | pLI = 0.79 o/e = 0.11 (0.04 - 0.5) |
† denotes a consequence that is for a non-canonical transcript
Cohort Key: SPARK SSC