L96F (p.Leu96Phe) variant of NIPBL (Nipped-B-like protein)
L96F (p.Leu96Phe) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L96F (p.Leu96Phe) variant details
- p.Leu96Phe
- gnomAD 5-36958161-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.93
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available