G20D (p.Gly20Asp) variant of CHD7 (Q9P2D1)
G20D (p.Gly20Asp) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- ExAC rs770139962
- gnomAD rs770139962
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.60
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.395