G38D (p.Gly38Asp) variant of CHD7 (Q9P2D1)
G38D (p.Gly38Asp) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- TOPMed rs1174791970
- gnomAD rs1174791970
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.06
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- CHD7 BRK domain domainome 1.0: score 0.0852