V99L (p.Val99Leu) variant of NIPBL (Nipped-B-like protein)
V99L (p.Val99Leu) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
V99L (p.Val99Leu) variant details
- p.Val99Leu
- ExAC rs779888500
- TOPMed rs779888500
- gnomAD rs779888500
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- ESM-1b 0.00
- AlphaMissense 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available