K38E (p.Lys38Glu) variant of NIPBL (Nipped-B-like protein)
K38E (p.Lys38Glu) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- TOPMed rs1286814983
- gnomAD rs1286814983
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 26.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available