E89E (p.Glu89Glu) variant of NIPBL (Nipped-B-like protein)
E89E (p.Glu89Glu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E89E (p.Glu89Glu) variant details
- p.Glu89Glu
- rs1204393071
- gnomAD 5-36958140-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 13.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available