D59D (p.Asp59Asp) variant of NIPBL (Nipped-B-like protein)
D59D (p.Asp59Asp) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D59D (p.Asp59Asp) variant details
- p.Asp59Asp
- rs2149599551
- gnomAD 5-36955584-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 9.75
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available