N133H (p.Asn133His) variant of CHD8 (Q9HCK8)
N133H (p.Asn133His) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
N133H (p.Asn133His) variant details
- p.Asn133His
- gnomAD rs1405740161
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.0002)