G84D (p.Gly84Asp) variant of NIPBL (Nipped-B-like protein)
G84D (p.Gly84Asp) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G84D (p.Gly84Asp) variant details
- p.Gly84Asp
- gnomAD 5-36958124-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available