S64G (p.Ser64Gly) variant of CHD8 (Q9HCK8)
S64G (p.Ser64Gly) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
S64G (p.Ser64Gly) variant details
- p.Ser64Gly
- TOPMed rs1674206814
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)