E26K (p.Glu26Lys) variant of CHD2 (O14647)
E26K (p.Glu26Lys) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- gnomAD 15-92924334-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.30
- MetaLR 0.69
- MetaSVM 0.44
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available