G20S (p.Gly20Ser) variant of CHD7 (Q9P2D1)
G20S (p.Gly20Ser) in CHD7 (Q9P2D1) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- cosmic curated COSV10611
- TOPMed rs1809004441
- Missense
- MetaLR 0.09
- MetaSVM -1.02
- SIFT 0.03
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.395