Q74Q (p.Gln74Gln) variant of CHD7 (Q9P2D1)
Q74Q (p.Gln74Gln) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q74Q (p.Gln74Gln) variant details
- p.Gln74Gln
- gnomAD 8-60741654-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 7.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available