A63T (p.Ala63Thr) variant of CHD8 (Q9HCK8)
A63T (p.Ala63Thr) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- gnomAD rs1284496199
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.74
- Population evidence available