P12T (p.Pro12Thr) variant of CHD8 (Q9HCK8)
P12T (p.Pro12Thr) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD rs1181931749
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 22.20
- PolyPhen-2 0.91
- SIFT 1.00
- Population evidence available