A101V (p.Ala101Val) variant of NIPBL (Nipped-B-like protein)
A101V (p.Ala101Val) 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 Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A101V (p.Ala101Val) variant details
- p.Ala101Val
- TOPMed rs986024813
- gnomAD rs986024813
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 24.60
- PolyPhen-2 0.13
- SIFT 0.05
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available