E44D (p.Glu44Asp) variant of ARID2 (Q68CP9)
E44D (p.Glu44Asp) 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.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- gnomAD 12-45730083-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.82
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available