E12D (p.Glu12Asp) variant of CHD7 (Q9P2D1)
E12D (p.Glu12Asp) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD rs1809003344
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.21
- MetaLR 0.05
- MetaSVM -1.01
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available