G42E (p.Gly42Glu) variant of CHD2 (O14647)
G42E (p.Gly42Glu) in CHD2 (O14647) 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, published literature, and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- gnomAD 15-92924383-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.17
- MetaLR 0.50
- MetaSVM -0.25
- CADD 22.60
- PolyPhen-2 0.27
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available