Category | Expected SNVs | Observed SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 81.7 | 80 | Z = 0.1 o/e = 0.98 (0.82 - 1.18) | |
Missense | 194 | 167 | Z = 0.71 o/e = 0.86 (0.76 - 0.98) | |
pLoF | 4.3 | 2 | pLI = 0.24 o/e = 0.47 (0.19 - 1.43) |
Constraint metrics based on MANE Select transcript (ENST00000393599.3).