D4V (p.Asp4Val) variant of NIPBL (Nipped-B-like protein)
D4V (p.Asp4Val) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
D4V (p.Asp4Val) variant details
- p.Asp4Val
- TOPMed rs983690389
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- ESM-1b 0.00
- AlphaMissense 1.00
- Structural context available