E78E (p.Glu78Glu) variant of NIPBL (Nipped-B-like protein)
E78E (p.Glu78Glu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E78E (p.Glu78Glu) variant details
- p.Glu78Glu
- gnomAD 5-36958107-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 4.27
- Population evidence available
- Structural context available
- Literature evidence available