p.Asp91dup variant of NIPBL (Nipped-B-like protein)
p.Asp91dup in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
p.Asp91dup variant details
- gnomAD 5-36958143-T-TGAC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available