L22F (p.Leu22Phe) variant of NIPBL (Nipped-B-like protein)
L22F (p.Leu22Phe) 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 0.65 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- TOPMed rs1580319373
- gnomAD rs1580319373
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available