Q104H (p.Gln104His) variant of CHD8 (Q9HCK8)
Q104H (p.Gln104His) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
Q104H (p.Gln104His) variant details
- p.Gln104His
- TOPMed rs929799421
- gnomAD rs929799421
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 22.40
- PolyPhen-2 0.79
- SIFT 0.07
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)