D59G (p.Asp59Gly) variant of NIPBL (Nipped-B-like protein)
D59G (p.Asp59Gly) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D59G (p.Asp59Gly) variant details
- p.Asp59Gly
- ExAC rs766738333
- gnomAD rs766738333
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.95
- MetaLR 0.86
- MetaSVM 0.92
- CADD 24.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available