G14G (p.Gly14Gly) variant of CHD7 (Q9P2D1)
G14G (p.Gly14Gly) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G14G (p.Gly14Gly) variant details
- p.Gly14Gly
- rs1215319146
- gnomAD 8-60741474-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 10.60
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.0837
- Literature evidence available