E22D (p.Glu22Asp) variant of CHD7 (Q9P2D1)
E22D (p.Glu22Asp) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- gnomAD 8-60741498-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.58
- CADD 21.60
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -1.03
- Literature evidence available