V94D (p.Val94Asp) variant of NIPBL (Nipped-B-like protein)
V94D (p.Val94Asp) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
V94D (p.Val94Asp) variant details
- p.Val94Asp
- TOPMed rs1741188824
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- ESM-1b 0.00
- AlphaMissense 0.83
- Structural context available