Category | Expected SNVs | Observed SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 194.7 | 253 | Z = -2.28 o/e = 1.3 (1.17 - 1.44) | |
Missense | 397.8 | 477 | Z = -1.45 o/e = 1.2 (1.11 - 1.29) | |
pLoF | 14.1 | 11 | pLI = 0 o/e = 0.78 (0.49 - 1.29) |
Constraint metrics based on MANE Select transcript (ENST00000382723.5).