S63S (p.Ser63Ser) variant of NIPBL (Nipped-B-like protein)
S63S (p.Ser63Ser) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S63S (p.Ser63Ser) variant details
- p.Ser63Ser
- rs755503212
- gnomAD 5-36955596-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 11.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available