L6Q (p.Leu6Gln) variant of DIP2B (Q9P265)
L6Q (p.Leu6Gln) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD 12-50505157-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.25
- MetaLR 0.03
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available