E12E (p.Glu12Glu) variant of U2AF1 (Q01081)
E12E (p.Glu12Glu) in U2AF1 (Q01081) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- rs777812309
- gnomAD 21-43107459-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 13.60
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available