V99I (p.Val99Ile) variant of NIPBL (Nipped-B-like protein)
V99I (p.Val99Ile) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V99I (p.Val99Ile) variant details
- p.Val99Ile
- rs779888500
- ClinGen CA3235776
- ClinVar RCV002908961
- ExAC rs779888500
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.99
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)