S85S (p.Ser85Ser) variant of NIPBL (Nipped-B-like protein)
S85S (p.Ser85Ser) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S85S (p.Ser85Ser) variant details
- p.Ser85Ser
- rs765659128
- gnomAD 5-36958128-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 11.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available