Q126R (p.Gln126Arg) variant of CHD8 (Q9HCK8)
Q126R (p.Gln126Arg) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
Q126R (p.Gln126Arg) variant details
- p.Gln126Arg
- gnomAD rs1297005540
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 23.40
- PolyPhen-2 0.41
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)