G38R (p.Gly38Arg) variant of CHD8 (Q9HCK8)
G38R (p.Gly38Arg) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- gnomAD rs1351882154
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 23.40
- SIFT 0.51
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)