R57T (p.Arg57Thr) variant of NIPBL (Nipped-B-like protein)
R57T (p.Arg57Thr) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
R57T (p.Arg57Thr) variant details
- p.Arg57Thr
- ExAC rs756415457
- gnomAD rs756415457
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.86
- ESM-1b 0.00
- AlphaMissense 0.89
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available