I90V (p.Ile90Val) variant of CHD8 (Q9HCK8)
I90V (p.Ile90Val) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
I90V (p.Ile90Val) variant details
- p.Ile90Val
- TOPMed rs906982387
- gnomAD rs906982387
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 9.62
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the REMAINING population (allele frequency 3.5e-05)