S41G (p.Ser41Gly) variant of CHD8 (Q9HCK8)
S41G (p.Ser41Gly) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
S41G (p.Ser41Gly) variant details
- p.Ser41Gly
- TOPMed rs1285991808
- gnomAD rs1285991808
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 17.80
- SIFT 0.99
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)