S68G (p.Ser68Gly) variant of NIPBL (Nipped-B-like protein)
S68G (p.Ser68Gly) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S68G (p.Ser68Gly) variant details
- p.Ser68Gly
- TOPMed rs1740847769
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available