A19E (p.Ala19Glu) variant of CHD2 (O14647)
A19E (p.Ala19Glu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 15-92901293-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.34
- MetaLR 0.47
- MetaSVM -0.41
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available