S30S (p.Ser30Ser) variant of NIPBL (Nipped-B-like protein)
S30S (p.Ser30Ser) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs1329131567
- gnomAD 5-36955497-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 11.00
- Population evidence available
- Structural context available
- Literature evidence available