T116I (p.Thr116Ile) variant of CHD8 (Q9HCK8)
T116I (p.Thr116Ile) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
T116I (p.Thr116Ile) variant details
- p.Thr116Ile
- ExAC rs780129107
- gnomAD rs780129107
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)