G20G (p.Gly20Gly) variant of CHD7 (Q9P2D1)
G20G (p.Gly20Gly) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20G (p.Gly20Gly) variant details
- p.Gly20Gly
- gnomAD 8-60741492-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 8.65
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.395
- Literature evidence available