H93Y (p.His93Tyr) variant of CHD8 (Q9HCK8)
H93Y (p.His93Tyr) 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.
H93Y (p.His93Tyr) variant details
- p.His93Tyr
- TOPMed rs1889557552
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 20.70
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.3e-05)