E26K (p.Glu26Lys) variant of DIP2B (Q9P265)
E26K (p.Glu26Lys) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- gnomAD 12-50505216-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.74
- CADD 29.10
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available