H67R (p.His67Arg) variant of NIPBL (Nipped-B-like protein)
H67R (p.His67Arg) 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 not provided; Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H67R (p.His67Arg) variant details
- p.His67Arg
- rs1388552505
- ClinGen CA359474439
- ClinVar RCV002214352
- ClinVar RCV005032189
- Uncertain significance
- not provided; Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.48
- CADD 22.30
- PolyPhen-2 0.30
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)