E12D (p.Glu12Asp) variant of ARID2 (Q68CP9)
E12D (p.Glu12Asp) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD 12-45729872-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.09
- CADD 20.40
- PolyPhen-2 0.07
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available