E89G (p.Glu89Gly) variant of NIPBL (Nipped-B-like protein)
E89G (p.Glu89Gly) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E89G (p.Glu89Gly) variant details
- p.Glu89Gly
- gnomAD 5-36958139-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available