I5N (p.Ile5Asn) variant of CHD8 (Q9HCK8)
I5N (p.Ile5Asn) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- TOPMed rs1194011285
- gnomAD rs1194011285
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 26.20
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)