A2T (p.Ala2Thr) variant of DIP2B (Q9P265)
A2T (p.Ala2Thr) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 12-50505144-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.05
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available