A8E (p.Ala8Glu) variant of ARID2 (Q68CP9)
A8E (p.Ala8Glu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 12-45729859-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.07
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available