G16E (p.Gly16Glu) variant of ARID2 (Q68CP9)
G16E (p.Gly16Glu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- gnomAD 12-45729883-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.36
- MetaLR 0.16
- MetaSVM -0.94
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available