E12E (p.Glu12Glu) variant of ARID2 (Q68CP9)
E12E (p.Glu12Glu) in ARID2 (Q68CP9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- rs768673828
- gnomAD 12-45729872-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 11.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available