S68S (p.Ser68Ser) variant of NIPBL (Nipped-B-like protein)
S68S (p.Ser68Ser) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S68S (p.Ser68Ser) variant details
- p.Ser68Ser
- rs746472461
- gnomAD 5-36955611-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 11.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available