T83I (p.Thr83Ile) variant of CHD8 (Q9HCK8)
T83I (p.Thr83Ile) 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.
T83I (p.Thr83Ile) variant details
- p.Thr83Ile
- gnomAD rs1160328003
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.3e-05)