T114A (p.Thr114Ala) variant of CHD8 (Q9HCK8)
T114A (p.Thr114Ala) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
T114A (p.Thr114Ala) variant details
- p.Thr114Ala
- Ensembl rs1594379827
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)