G28G (p.Gly28Gly) variant of CHD7 (Q9P2D1)
G28G (p.Gly28Gly) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G28G (p.Gly28Gly) variant details
- p.Gly28Gly
- gnomAD 8-60741516-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.499
- Literature evidence available