E22E (p.Glu22Glu) variant of CHD7 (Q9P2D1)
E22E (p.Glu22Glu) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- gnomAD 8-60741498-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 8.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -1.03
- Literature evidence available