G16R (p.Gly16Arg) variant of CHD8 (Q9HCK8)
G16R (p.Gly16Arg) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- TOPMed rs1254248109
- gnomAD rs1254248109
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)