D75E (p.Asp75Glu) variant of NIPBL (Nipped-B-like protein)
D75E (p.Asp75Glu) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- gnomAD 5-36955632-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available