P18H (p.Pro18His) variant of DIP2B (Q9P265)
P18H (p.Pro18His) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P18H (p.Pro18His) variant details
- p.Pro18His
- gnomAD 12-50505193-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.47
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available