E127G (p.Glu127Gly) variant of CHD8 (Q9HCK8)
E127G (p.Glu127Gly) in CHD8 (Q9HCK8) is a missense change. The record also includes variant effect predictions.
E127G (p.Glu127Gly) variant details
- p.Glu127Gly
- cosmic curated COSV67873
- TOPMed rs1889551230
- Missense
- SIFT 0.27