Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 101.1 | 101 | Z = 0.01 o/e = 1 (0.85 - 1.18) | |
Missense | 254.4 | 116 | Z = 3.08 o/e = 0.46 (0.39 - 0.53) | |
LoF | 26.6 | 0 | pLI = 1 o/e = 0 (0 - 0.11) |
† denotes a consequence that is for a non-canonical transcript
Cohort Key: SPARK SSC