E44K (p.Glu44Lys) variant of ARID2 (Q68CP9)
E44K (p.Glu44Lys) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- gnomAD 12-45730081-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.25
- MetaLR 0.32
- MetaSVM -0.60
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available