L27M (p.Leu27Met) variant of DIP2B (Q9P265)
L27M (p.Leu27Met) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 12-50505219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.51
- MetaLR 0.61
- MetaSVM 0.43
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available