R102S (p.Arg102Ser) variant of NIPBL (Nipped-B-like protein)
R102S (p.Arg102Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R102S (p.Arg102Ser) variant details
- p.Arg102Ser
- rs778661285
- ClinGen CA3235779
- ClinVar RCV002444328
- ClinVar RCV003130717
- Uncertain significance
- Cornelia de Lange syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.08
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)