G137S (p.Gly137Ser) variant of CHD8 (Q9HCK8)
G137S (p.Gly137Ser) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
G137S (p.Gly137Ser) variant details
- p.Gly137Ser
- TOPMed rs1445739326
- gnomAD rs1445739326
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)