A44A (p.Ala44Ala) variant of NIPBL (Nipped-B-like protein)
A44A (p.Ala44Ala) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- gnomAD 5-36955539-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 11.00
- Population evidence available
- Structural context available
- Literature evidence available