A98A (p.Ala98Ala) variant of NIPBL (Nipped-B-like protein)
A98A (p.Ala98Ala) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A98A (p.Ala98Ala) variant details
- p.Ala98Ala
- rs142184978
- gnomAD 5-36958167-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.58
- Most common in the 1KG:YRI population (allele frequency 0.022)
- Structural context available
- Cited in: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. (PMID 18414213)