F42C (p.Phe42Cys) variant of NIPBL (Nipped-B-like protein)
F42C (p.Phe42Cys) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
F42C (p.Phe42Cys) variant details
- p.Phe42Cys
- gnomAD 5-36955532-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 26.00
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available