V50G (p.Val50Gly) variant of NIPBL (Nipped-B-like protein)
V50G (p.Val50Gly) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
V50G (p.Val50Gly) variant details
- p.Val50Gly
- TOPMed rs1740841745
- Uncertain significance
- Inborn genetic diseases; Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- ESM-1b 0.00
- AlphaMissense 0.88
- ClinVar: Uncertain significance (Inborn genetic diseases; Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available