G84G (p.Gly84Gly) variant of NIPBL (Nipped-B-like protein)
G84G (p.Gly84Gly) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G84G (p.Gly84Gly) variant details
- p.Gly84Gly
- rs1206531048
- gnomAD 5-36958125-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 15.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available