Q40Q (p.Gln40Gln) variant of CHD7 (Q9P2D1)
Q40Q (p.Gln40Gln) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q40Q (p.Gln40Gln) variant details
- p.Gln40Gln
- rs753525257
- gnomAD 8-60741552-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.14
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.402
- Literature evidence available