T112I (p.Thr112Ile) variant of CHD8 (Q9HCK8)
T112I (p.Thr112Ile) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
T112I (p.Thr112Ile) variant details
- p.Thr112Ile
- gnomAD rs1425359039
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)