E11D (p.Glu11Asp) variant of CHD2 (O14647)
E11D (p.Glu11Asp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 15-92901270-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.23
- MetaLR 0.43
- MetaSVM -0.42
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available