E48E (p.Glu48Glu) variant of NIPBL (Nipped-B-like protein)
E48E (p.Glu48Glu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- gnomAD 5-36955551-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available