L83F (p.Leu83Phe) variant of NIPBL (Nipped-B-like protein)
L83F (p.Leu83Phe) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L83F (p.Leu83Phe) variant details
- p.Leu83Phe
- gnomAD rs1741184454
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 24.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available