Q78Q (p.Gln78Gln) variant of CHD7 (Q9P2D1)
Q78Q (p.Gln78Gln) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q78Q (p.Gln78Gln) variant details
- p.Gln78Gln
- rs763656339
- gnomAD 8-60741666-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0925
- CADD 1.67
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available