A2E (p.Ala2Glu) variant of ARID2 (Q68CP9)
A2E (p.Ala2Glu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 12-45729841-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available