T116A (p.Thr116Ala) variant of CHD8 (Q9HCK8)
T116A (p.Thr116Ala) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
T116A (p.Thr116Ala) variant details
- p.Thr116Ala
- ExAC rs747109123
- TOPMed rs747109123
- gnomAD rs747109123
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 0.00062)