E81G (p.Glu81Gly) variant of CHD8 (Q9HCK8)
E81G (p.Glu81Gly) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
E81G (p.Glu81Gly) variant details
- p.Glu81Gly
- TOPMed rs1889559004
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.85
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)