G118R (p.Gly118Arg) variant of CHD8 (Q9HCK8)
G118R (p.Gly118Arg) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
G118R (p.Gly118Arg) variant details
- p.Gly118Arg
- Ensembl rs775464118
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)